A case of epilepsy with myoclonic atonic seizures caused by

Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case pres...
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Gespeichert in:

Autor*in:	Mori, Tatsuo [verfasserIn] Sakamoto, Masamune [verfasserIn] Tayama, Takahiro [verfasserIn] Goji, Aya [verfasserIn] Toda, Yoshihiro [verfasserIn] Fujita, Atsushi [verfasserIn] Mizuguchi, Takeshi [verfasserIn] Urushihara, Maki [verfasserIn] Matsumoto, Naomichi [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing

Übergeordnetes Werk:	Enthalten in: Brain & development - Amsterdam [u.a.] : Elsevier Science, 1979, 45, Seite 395-400
Übergeordnetes Werk:	volume:45 ; pages:395-400

DOI / URN:	10.1016/j.braindev.2023.03.001

Katalog-ID:	ELV010333010

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100	1		\|a Mori, Tatsuo \|e verfasserin \|4 aut
245	1	0	\|a A case of epilepsy with myoclonic atonic seizures caused by
264		1	\|c 2023
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520			\|a Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.
650		4	\|a Epilepsy with myoclonic atonic seizures (EMAtS)
650		4	\|a Balanced chromosomal translocation
650		4	\|a Long-read sequencing
700	1		\|a Sakamoto, Masamune \|e verfasserin \|0 (orcid)0000-0002-6017-3005 \|4 aut
700	1		\|a Tayama, Takahiro \|e verfasserin \|4 aut
700	1		\|a Goji, Aya \|e verfasserin \|4 aut
700	1		\|a Toda, Yoshihiro \|e verfasserin \|0 (orcid)0000-0002-1076-2231 \|4 aut
700	1		\|a Fujita, Atsushi \|e verfasserin \|4 aut
700	1		\|a Mizuguchi, Takeshi \|e verfasserin \|0 (orcid)0000-0003-4998-1244 \|4 aut
700	1		\|a Urushihara, Maki \|e verfasserin \|4 aut
700	1		\|a Matsumoto, Naomichi \|e verfasserin \|4 aut
773	0	8	\|i Enthalten in \|t Brain & development \|d Amsterdam [u.a.] : Elsevier Science, 1979 \|g 45, Seite 395-400 \|h Online-Ressource \|w (DE-627)306654350 \|w (DE-600)1499913-4 \|w (DE-576)081984650 \|x 1872-7131 \|7 nnns
773	1	8	\|g volume:45 \|g pages:395-400
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912			\|a GBV_ILN_151
912			\|a GBV_ILN_187
912			\|a GBV_ILN_213
912			\|a GBV_ILN_224
912			\|a GBV_ILN_230
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_702
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912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2007
912			\|a GBV_ILN_2008
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912			\|a GBV_ILN_2010
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912			\|a GBV_ILN_2026
912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
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912			\|a GBV_ILN_2056
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912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2106
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912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2122
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912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2190
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912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2470
912			\|a GBV_ILN_2507
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4251
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4393
912			\|a GBV_ILN_4700
936	b	k	\|a 44.90 \|j Neurologie \|q VZ
951			\|a AR
952			\|d 45 \|h 395-400

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publishDate	2023
allfields	10.1016/j.braindev.2023.03.001 doi (DE-627)ELV010333010 (ELSEVIER)S0387-7604(23)00044-X DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Mori, Tatsuo verfasserin aut A case of epilepsy with myoclonic atonic seizures caused by 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing Sakamoto, Masamune verfasserin (orcid)0000-0002-6017-3005 aut Tayama, Takahiro verfasserin aut Goji, Aya verfasserin aut Toda, Yoshihiro verfasserin (orcid)0000-0002-1076-2231 aut Fujita, Atsushi verfasserin aut Mizuguchi, Takeshi verfasserin (orcid)0000-0003-4998-1244 aut Urushihara, Maki verfasserin aut Matsumoto, Naomichi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 45, Seite 395-400 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:45 pages:395-400 GBV_USEFLAG_U GBV_ELV SYSFLAG_U 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_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 45 395-400
spelling	10.1016/j.braindev.2023.03.001 doi (DE-627)ELV010333010 (ELSEVIER)S0387-7604(23)00044-X DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Mori, Tatsuo verfasserin aut A case of epilepsy with myoclonic atonic seizures caused by 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing Sakamoto, Masamune verfasserin (orcid)0000-0002-6017-3005 aut Tayama, Takahiro verfasserin aut Goji, Aya verfasserin aut Toda, Yoshihiro verfasserin (orcid)0000-0002-1076-2231 aut Fujita, Atsushi verfasserin aut Mizuguchi, Takeshi verfasserin (orcid)0000-0003-4998-1244 aut Urushihara, Maki verfasserin aut Matsumoto, Naomichi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 45, Seite 395-400 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:45 pages:395-400 GBV_USEFLAG_U GBV_ELV SYSFLAG_U 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_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 45 395-400
allfields_unstemmed	10.1016/j.braindev.2023.03.001 doi (DE-627)ELV010333010 (ELSEVIER)S0387-7604(23)00044-X DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Mori, Tatsuo verfasserin aut A case of epilepsy with myoclonic atonic seizures caused by 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing Sakamoto, Masamune verfasserin (orcid)0000-0002-6017-3005 aut Tayama, Takahiro verfasserin aut Goji, Aya verfasserin aut Toda, Yoshihiro verfasserin (orcid)0000-0002-1076-2231 aut Fujita, Atsushi verfasserin aut Mizuguchi, Takeshi verfasserin (orcid)0000-0003-4998-1244 aut Urushihara, Maki verfasserin aut Matsumoto, Naomichi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 45, Seite 395-400 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:45 pages:395-400 GBV_USEFLAG_U GBV_ELV SYSFLAG_U 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_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 45 395-400
allfieldsGer	10.1016/j.braindev.2023.03.001 doi (DE-627)ELV010333010 (ELSEVIER)S0387-7604(23)00044-X DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Mori, Tatsuo verfasserin aut A case of epilepsy with myoclonic atonic seizures caused by 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing Sakamoto, Masamune verfasserin (orcid)0000-0002-6017-3005 aut Tayama, Takahiro verfasserin aut Goji, Aya verfasserin aut Toda, Yoshihiro verfasserin (orcid)0000-0002-1076-2231 aut Fujita, Atsushi verfasserin aut Mizuguchi, Takeshi verfasserin (orcid)0000-0003-4998-1244 aut Urushihara, Maki verfasserin aut Matsumoto, Naomichi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 45, Seite 395-400 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:45 pages:395-400 GBV_USEFLAG_U GBV_ELV SYSFLAG_U 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_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 45 395-400
allfieldsSound	10.1016/j.braindev.2023.03.001 doi (DE-627)ELV010333010 (ELSEVIER)S0387-7604(23)00044-X DE-627 ger DE-627 rda eng 610 VZ 44.90 bkl Mori, Tatsuo verfasserin aut A case of epilepsy with myoclonic atonic seizures caused by 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality. Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing Sakamoto, Masamune verfasserin (orcid)0000-0002-6017-3005 aut Tayama, Takahiro verfasserin aut Goji, Aya verfasserin aut Toda, Yoshihiro verfasserin (orcid)0000-0002-1076-2231 aut Fujita, Atsushi verfasserin aut Mizuguchi, Takeshi verfasserin (orcid)0000-0003-4998-1244 aut Urushihara, Maki verfasserin aut Matsumoto, Naomichi verfasserin aut Enthalten in Brain & development Amsterdam [u.a.] : Elsevier Science, 1979 45, Seite 395-400 Online-Ressource (DE-627)306654350 (DE-600)1499913-4 (DE-576)081984650 1872-7131 nnns volume:45 pages:395-400 GBV_USEFLAG_U GBV_ELV SYSFLAG_U 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_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 Neurologie VZ AR 45 395-400
language	English
source	Enthalten in Brain & development 45, Seite 395-400 volume:45 pages:395-400
sourceStr	Enthalten in Brain & development 45, Seite 395-400 volume:45 pages:395-400
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing
dewey-raw	610
isfreeaccess_bool	false
container_title	Brain & development
authorswithroles_txt_mv	Mori, Tatsuo @@aut@@ Sakamoto, Masamune @@aut@@ Tayama, Takahiro @@aut@@ Goji, Aya @@aut@@ Toda, Yoshihiro @@aut@@ Fujita, Atsushi @@aut@@ Mizuguchi, Takeshi @@aut@@ Urushihara, Maki @@aut@@ Matsumoto, Naomichi @@aut@@
publishDateDaySort_date	2023-01-01T00:00:00Z
hierarchy_top_id	306654350
dewey-sort	3610
id	ELV010333010
language_de	englisch
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author	Mori, Tatsuo
spellingShingle	Mori, Tatsuo ddc 610 bkl 44.90 misc Epilepsy with myoclonic atonic seizures (EMAtS) misc Balanced chromosomal translocation misc Long-read sequencing A case of epilepsy with myoclonic atonic seizures caused by
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topic_title	610 VZ 44.90 bkl A case of epilepsy with myoclonic atonic seizures caused by Epilepsy with myoclonic atonic seizures (EMAtS) Balanced chromosomal translocation Long-read sequencing
topic	ddc 610 bkl 44.90 misc Epilepsy with myoclonic atonic seizures (EMAtS) misc Balanced chromosomal translocation misc Long-read sequencing
topic_unstemmed	ddc 610 bkl 44.90 misc Epilepsy with myoclonic atonic seizures (EMAtS) misc Balanced chromosomal translocation misc Long-read sequencing
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title	A case of epilepsy with myoclonic atonic seizures caused by
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title_full	A case of epilepsy with myoclonic atonic seizures caused by
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author_browse	Mori, Tatsuo Sakamoto, Masamune Tayama, Takahiro Goji, Aya Toda, Yoshihiro Fujita, Atsushi Mizuguchi, Takeshi Urushihara, Maki Matsumoto, Naomichi
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title_sort	a case of epilepsy with myoclonic atonic seizures caused by
title_auth	A case of epilepsy with myoclonic atonic seizures caused by
abstract	Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.
abstractGer	Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.
abstract_unstemmed	Introduction: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.
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title_short	A case of epilepsy with myoclonic atonic seizures caused by
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author2	Sakamoto, Masamune Tayama, Takahiro Goji, Aya Toda, Yoshihiro Fujita, Atsushi Mizuguchi, Takeshi Urushihara, Maki Matsumoto, Naomichi
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up_date	2024-07-06T17:37:22.791Z
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We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient.Case presentation: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month. At 4 years of age, her seizures increased to more than 10 times per hour. An ictal electroencephalogram (EEG) showed a 3–4-Hz spike-and-wave complex, which was consistent with atonic and myoclonic seizures of the trunk, eyelids, and lips. Therefore, EMAtS was diagnosed based on the symptoms and EEG findings. After administration of valproic acid (VPA), the epileptic seizures disappeared immediately. At the age of 5 years and 2 months, the seizures recurred but disappeared again when the dose of VPA was increased. Subsequently, no recurrence was observed until 6 years and 3 months of age on VPA and lamotrigine. Chromosome analysis of the patient disclosed 46,XX,t(3;11)(p25;q13.1)dn. Long-read sequencing of the the patient’s genomic DNA revealed that the 3p25.3 translocation breakpoint disrupted the intron 7 of the SLC6A1 gene.Conclusion: The SLC6A1 disruption by chromosome translocation well explains the clinical features of this patient. Long-read sequencing is a powerful technique to determine genomic abnormality at the nucleotide level for disease-associated chromosomal abnormality.</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Epilepsy with myoclonic atonic seizures (EMAtS)</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Balanced chromosomal translocation</subfield></datafield><datafield tag="650" ind1=" " ind2="4"><subfield code="a">Long-read sequencing</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sakamoto, Masamune</subfield><subfield code="e">verfasserin</subfield><subfield code="0">(orcid)0000-0002-6017-3005</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Tayama, Takahiro</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Goji, 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