Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex

Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used...
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Autor*in:	Ihnen, S. Katie Z. [verfasserIn] Capal, Jamie K. [verfasserIn] Horn, Paul S. [verfasserIn] Griffith, Molly [verfasserIn] Sahin, Mustafa [verfasserIn] Bebin, E. Martina [verfasserIn] Wu, Joyce Y. [verfasserIn] Northrup, Hope [verfasserIn] Krueger, Darcy A. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures

Übergeordnetes Werk:	Enthalten in: Pediatric neurology - Amsterdam [u.a.] : Elsevier Science, 1985, 123, Seite 1-9
Übergeordnetes Werk:	volume:123 ; pages:1-9

DOI / URN:	10.1016/j.pediatrneurol.2021.06.012

Katalog-ID:	ELV006559298

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100	1		\|a Ihnen, S. Katie Z. \|e verfasserin \|0 (orcid)0000-0002-2169-4270 \|4 aut
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520			\|a Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.
650		4	\|a Seizure burden
650		4	\|a Seizure diary
650		4	\|a Epilepsy phenotype
650		4	\|a Epileptic spasms
650		4	\|a Epilepsy in infancy
650		4	\|a Tubers
650		4	\|a Focal seizures
700	1		\|a Capal, Jamie K. \|e verfasserin \|0 (orcid)0000-0002-7579-375X \|4 aut
700	1		\|a Horn, Paul S. \|e verfasserin \|4 aut
700	1		\|a Griffith, Molly \|e verfasserin \|0 (orcid)0000-0003-2185-864X \|4 aut
700	1		\|a Sahin, Mustafa \|e verfasserin \|0 (orcid)0000-0001-7044-2953 \|4 aut
700	1		\|a Bebin, E. Martina \|e verfasserin \|4 aut
700	1		\|a Wu, Joyce Y. \|e verfasserin \|4 aut
700	1		\|a Northrup, Hope \|e verfasserin \|0 (orcid)0000-0002-2892-0840 \|4 aut
700	1		\|a Krueger, Darcy A. \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Pediatric neurology \|d Amsterdam [u.a.] : Elsevier Science, 1985 \|g 123, Seite 1-9 \|h Online-Ressource \|w (DE-627)320518930 \|w (DE-600)2014321-7 \|w (DE-576)091017882 \|x 1873-5150 \|7 nnns
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allfields	10.1016/j.pediatrneurol.2021.06.012 doi (DE-627)ELV006559298 (ELSEVIER)S0887-8994(21)00141-7 DE-627 ger DE-627 rda eng 610 DE-600 44.67 bkl 44.90 bkl Ihnen, S. Katie Z. verfasserin (orcid)0000-0002-2169-4270 aut Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity. Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures Capal, Jamie K. verfasserin (orcid)0000-0002-7579-375X aut Horn, Paul S. verfasserin aut Griffith, Molly verfasserin (orcid)0000-0003-2185-864X aut Sahin, Mustafa verfasserin (orcid)0000-0001-7044-2953 aut Bebin, E. Martina verfasserin aut Wu, Joyce Y. verfasserin aut Northrup, Hope verfasserin (orcid)0000-0002-2892-0840 aut Krueger, Darcy A. verfasserin aut Enthalten in Pediatric neurology Amsterdam [u.a.] : Elsevier Science, 1985 123, Seite 1-9 Online-Ressource (DE-627)320518930 (DE-600)2014321-7 (DE-576)091017882 1873-5150 nnns volume:123 pages:1-9 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.67 Kinderheilkunde 44.90 Neurologie AR 123 1-9
spelling	10.1016/j.pediatrneurol.2021.06.012 doi (DE-627)ELV006559298 (ELSEVIER)S0887-8994(21)00141-7 DE-627 ger DE-627 rda eng 610 DE-600 44.67 bkl 44.90 bkl Ihnen, S. Katie Z. verfasserin (orcid)0000-0002-2169-4270 aut Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity. Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures Capal, Jamie K. verfasserin (orcid)0000-0002-7579-375X aut Horn, Paul S. verfasserin aut Griffith, Molly verfasserin (orcid)0000-0003-2185-864X aut Sahin, Mustafa verfasserin (orcid)0000-0001-7044-2953 aut Bebin, E. Martina verfasserin aut Wu, Joyce Y. verfasserin aut Northrup, Hope verfasserin (orcid)0000-0002-2892-0840 aut Krueger, Darcy A. verfasserin aut Enthalten in Pediatric neurology Amsterdam [u.a.] : Elsevier Science, 1985 123, Seite 1-9 Online-Ressource (DE-627)320518930 (DE-600)2014321-7 (DE-576)091017882 1873-5150 nnns volume:123 pages:1-9 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.67 Kinderheilkunde 44.90 Neurologie AR 123 1-9
allfields_unstemmed	10.1016/j.pediatrneurol.2021.06.012 doi (DE-627)ELV006559298 (ELSEVIER)S0887-8994(21)00141-7 DE-627 ger DE-627 rda eng 610 DE-600 44.67 bkl 44.90 bkl Ihnen, S. Katie Z. verfasserin (orcid)0000-0002-2169-4270 aut Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity. Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures Capal, Jamie K. verfasserin (orcid)0000-0002-7579-375X aut Horn, Paul S. verfasserin aut Griffith, Molly verfasserin (orcid)0000-0003-2185-864X aut Sahin, Mustafa verfasserin (orcid)0000-0001-7044-2953 aut Bebin, E. Martina verfasserin aut Wu, Joyce Y. verfasserin aut Northrup, Hope verfasserin (orcid)0000-0002-2892-0840 aut Krueger, Darcy A. verfasserin aut Enthalten in Pediatric neurology Amsterdam [u.a.] : Elsevier Science, 1985 123, Seite 1-9 Online-Ressource (DE-627)320518930 (DE-600)2014321-7 (DE-576)091017882 1873-5150 nnns volume:123 pages:1-9 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.67 Kinderheilkunde 44.90 Neurologie AR 123 1-9
allfieldsGer	10.1016/j.pediatrneurol.2021.06.012 doi (DE-627)ELV006559298 (ELSEVIER)S0887-8994(21)00141-7 DE-627 ger DE-627 rda eng 610 DE-600 44.67 bkl 44.90 bkl Ihnen, S. Katie Z. verfasserin (orcid)0000-0002-2169-4270 aut Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity. Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures Capal, Jamie K. verfasserin (orcid)0000-0002-7579-375X aut Horn, Paul S. verfasserin aut Griffith, Molly verfasserin (orcid)0000-0003-2185-864X aut Sahin, Mustafa verfasserin (orcid)0000-0001-7044-2953 aut Bebin, E. Martina verfasserin aut Wu, Joyce Y. verfasserin aut Northrup, Hope verfasserin (orcid)0000-0002-2892-0840 aut Krueger, Darcy A. verfasserin aut Enthalten in Pediatric neurology Amsterdam [u.a.] : Elsevier Science, 1985 123, Seite 1-9 Online-Ressource (DE-627)320518930 (DE-600)2014321-7 (DE-576)091017882 1873-5150 nnns volume:123 pages:1-9 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.67 Kinderheilkunde 44.90 Neurologie AR 123 1-9
allfieldsSound	10.1016/j.pediatrneurol.2021.06.012 doi (DE-627)ELV006559298 (ELSEVIER)S0887-8994(21)00141-7 DE-627 ger DE-627 rda eng 610 DE-600 44.67 bkl 44.90 bkl Ihnen, S. Katie Z. verfasserin (orcid)0000-0002-2169-4270 aut Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex 2021 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity. Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures Capal, Jamie K. verfasserin (orcid)0000-0002-7579-375X aut Horn, Paul S. verfasserin aut Griffith, Molly verfasserin (orcid)0000-0003-2185-864X aut Sahin, Mustafa verfasserin (orcid)0000-0001-7044-2953 aut Bebin, E. Martina verfasserin aut Wu, Joyce Y. verfasserin aut Northrup, Hope verfasserin (orcid)0000-0002-2892-0840 aut Krueger, Darcy A. verfasserin aut Enthalten in Pediatric neurology Amsterdam [u.a.] : Elsevier Science, 1985 123, Seite 1-9 Online-Ressource (DE-627)320518930 (DE-600)2014321-7 (DE-576)091017882 1873-5150 nnns volume:123 pages:1-9 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_224 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4313 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4393 44.67 Kinderheilkunde 44.90 Neurologie AR 123 1-9
language	English
source	Enthalten in Pediatric neurology 123, Seite 1-9 volume:123 pages:1-9
sourceStr	Enthalten in Pediatric neurology 123, Seite 1-9 volume:123 pages:1-9
format_phy_str_mv	Article
bklname	Kinderheilkunde Neurologie
institution	findex.gbv.de
topic_facet	Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures
dewey-raw	610
isfreeaccess_bool	false
container_title	Pediatric neurology
authorswithroles_txt_mv	Ihnen, S. Katie Z. @@aut@@ Capal, Jamie K. @@aut@@ Horn, Paul S. @@aut@@ Griffith, Molly @@aut@@ Sahin, Mustafa @@aut@@ Bebin, E. Martina @@aut@@ Wu, Joyce Y. @@aut@@ Northrup, Hope @@aut@@ Krueger, Darcy A. @@aut@@
publishDateDaySort_date	2021-01-01T00:00:00Z
hierarchy_top_id	320518930
dewey-sort	3610
id	ELV006559298
language_de	englisch
fullrecord	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV006559298</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230524163318.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230505s2021 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.pediatrneurol.2021.06.012</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV006559298</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0887-8994(21)00141-7</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.67</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Ihnen, S. Katie Z.</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-2169-4270</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. 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author	Ihnen, S. Katie Z.
spellingShingle	Ihnen, S. Katie Z. ddc 610 bkl 44.67 bkl 44.90 misc Seizure burden misc Seizure diary misc Epilepsy phenotype misc Epileptic spasms misc Epilepsy in infancy misc Tubers misc Focal seizures Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
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topic_title	610 DE-600 44.67 bkl 44.90 bkl Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex Seizure burden Seizure diary Epilepsy phenotype Epileptic spasms Epilepsy in infancy Tubers Focal seizures
topic	ddc 610 bkl 44.67 bkl 44.90 misc Seizure burden misc Seizure diary misc Epilepsy phenotype misc Epileptic spasms misc Epilepsy in infancy misc Tubers misc Focal seizures
topic_unstemmed	ddc 610 bkl 44.67 bkl 44.90 misc Seizure burden misc Seizure diary misc Epilepsy phenotype misc Epileptic spasms misc Epilepsy in infancy misc Tubers misc Focal seizures
topic_browse	ddc 610 bkl 44.67 bkl 44.90 misc Seizure burden misc Seizure diary misc Epilepsy phenotype misc Epileptic spasms misc Epilepsy in infancy misc Tubers misc Focal seizures
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title	Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
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title_full	Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
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author_browse	Ihnen, S. Katie Z. Capal, Jamie K. Horn, Paul S. Griffith, Molly Sahin, Mustafa Bebin, E. Martina Wu, Joyce Y. Northrup, Hope Krueger, Darcy A.
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title_sort	epilepsy is heterogeneous in early-life tuberous sclerosis complex
title_auth	Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
abstract	Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.
abstractGer	Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.
abstract_unstemmed	Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.
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title_short	Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
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author2	Capal, Jamie K. Horn, Paul S. Griffith, Molly Sahin, Mustafa Bebin, E. Martina Wu, Joyce Y. Northrup, Hope Krueger, Darcy A.
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doi_str	10.1016/j.pediatrneurol.2021.06.012
up_date	2024-07-06T21:47:41.644Z
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Katie Z.</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-2169-4270</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2021</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Background: Epilepsy in tuberous sclerosis complex (TSC) typically presents with early onset, multiple seizure types, and intractability. However, variability is observed among individuals. Here, detailed individual data on seizure characteristics collected prospectively during early life were used to define epilepsy profiles in this population.Methods: Children aged zero to 36 months were followed longitudinally. Caregivers kept daily seizure diaries, including onset and daily counts for each seizure type. Patients with >70% seizure diary completion and >365 diary days were included. Developmental outcomes at 36 months were compared between subgroups.Results: Epilepsy was seen in 124 of 156 (79%) participants. Seizure onset occurred from zero to 29.5 months; 93% had onset before age 12 months. Focal seizures and epileptic spasms were most common. Number of seizures (for median 897 days) ranged from 1 to 9128. Hierarchical clustering based on six metrics of seizure burden (age of onset, total seizures, ratio of seizure days to nonseizure days, seizures per seizure day, and worst seven- and 30-day stretches) revealed two distinct groups with broadly favorable and unfavorable epilepsy profiles. Subpopulations within each group showed clinically meaningful differences in seizure burden. Groups with higher seizure burden had worse developmental outcomes at 36 months.Conclusions: Although epilepsy is highly prevalent in TSC, not all young children with TSC have the same epilepsy profile. At least two phenotypic subpopulations are discernible based on seizure burden. Early and aggressive treatments for epilepsy in TSC may be best leveraged by targeting specific subgroups based on phenotype severity.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Seizure burden</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Seizure diary</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Epilepsy phenotype</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Epileptic spasms</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Epilepsy in infancy</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Tubers</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Focal seizures</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Capal, Jamie K.</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-7579-375X</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Horn, Paul S.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Griffith, Molly</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0003-2185-864X</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sahin, Mustafa</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0001-7044-2953</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Bebin, E. 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Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex

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