Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features....
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Gespeichert in:

Autor*in:	Soto-Insuga, Víctor [verfasserIn] López, Rosa Guerrero [verfasserIn] Losada-Del Pozo, Rebeca [verfasserIn] Rodrigo-Moreno, María [verfasserIn] Cayuelas, Elena Martínez [verfasserIn] Giráldez, Beatriz G. [verfasserIn] Díaz-Gómez, Ester [verfasserIn] Sánchez-Martín, Gema [verfasserIn] García, Laura Olivié [verfasserIn] Serratosa, José M. [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE)

Übergeordnetes Werk:	Enthalten in: Epilepsy research - Amsterdam [u.a.] : Elsevier Science, 1987, 154, Seite 39-41
Übergeordnetes Werk:	volume:154 ; pages:39-41

DOI / URN:	10.1016/j.eplepsyres.2019.04.003

Katalog-ID:	ELV002440997

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520			\|a Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families.
650		4	\|a Glucose transporter type 1 deficiency syndrome (GLUT1-DS)
650		4	\|a Absence epilepsy
650		4	\|a Early onset absence epilepsy (EOAE)
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700	1		\|a Rodrigo-Moreno, María \|e verfasserin \|4 aut
700	1		\|a Cayuelas, Elena Martínez \|e verfasserin \|4 aut
700	1		\|a Giráldez, Beatriz G. \|e verfasserin \|4 aut
700	1		\|a Díaz-Gómez, Ester \|e verfasserin \|4 aut
700	1		\|a Sánchez-Martín, Gema \|e verfasserin \|4 aut
700	1		\|a García, Laura Olivié \|e verfasserin \|4 aut
700	1		\|a Serratosa, José M. \|e verfasserin \|4 aut
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936	b	k	\|a 44.90 \|j Neurologie
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publishDate	2019
allfields	10.1016/j.eplepsyres.2019.04.003 doi (DE-627)ELV002440997 (ELSEVIER)S0920-1211(18)30466-2 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Soto-Insuga, Víctor verfasserin aut Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE) López, Rosa Guerrero verfasserin aut Losada-Del Pozo, Rebeca verfasserin aut Rodrigo-Moreno, María verfasserin aut Cayuelas, Elena Martínez verfasserin aut Giráldez, Beatriz G. verfasserin aut Díaz-Gómez, Ester verfasserin aut Sánchez-Martín, Gema verfasserin aut García, Laura Olivié verfasserin aut Serratosa, José M. verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 154, Seite 39-41 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:154 pages:39-41 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 44.90 Neurologie AR 154 39-41
spelling	10.1016/j.eplepsyres.2019.04.003 doi (DE-627)ELV002440997 (ELSEVIER)S0920-1211(18)30466-2 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Soto-Insuga, Víctor verfasserin aut Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE) López, Rosa Guerrero verfasserin aut Losada-Del Pozo, Rebeca verfasserin aut Rodrigo-Moreno, María verfasserin aut Cayuelas, Elena Martínez verfasserin aut Giráldez, Beatriz G. verfasserin aut Díaz-Gómez, Ester verfasserin aut Sánchez-Martín, Gema verfasserin aut García, Laura Olivié verfasserin aut Serratosa, José M. verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 154, Seite 39-41 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:154 pages:39-41 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 44.90 Neurologie AR 154 39-41
allfields_unstemmed	10.1016/j.eplepsyres.2019.04.003 doi (DE-627)ELV002440997 (ELSEVIER)S0920-1211(18)30466-2 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Soto-Insuga, Víctor verfasserin aut Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE) López, Rosa Guerrero verfasserin aut Losada-Del Pozo, Rebeca verfasserin aut Rodrigo-Moreno, María verfasserin aut Cayuelas, Elena Martínez verfasserin aut Giráldez, Beatriz G. verfasserin aut Díaz-Gómez, Ester verfasserin aut Sánchez-Martín, Gema verfasserin aut García, Laura Olivié verfasserin aut Serratosa, José M. verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 154, Seite 39-41 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:154 pages:39-41 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 44.90 Neurologie AR 154 39-41
allfieldsGer	10.1016/j.eplepsyres.2019.04.003 doi (DE-627)ELV002440997 (ELSEVIER)S0920-1211(18)30466-2 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Soto-Insuga, Víctor verfasserin aut Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE) López, Rosa Guerrero verfasserin aut Losada-Del Pozo, Rebeca verfasserin aut Rodrigo-Moreno, María verfasserin aut Cayuelas, Elena Martínez verfasserin aut Giráldez, Beatriz G. verfasserin aut Díaz-Gómez, Ester verfasserin aut Sánchez-Martín, Gema verfasserin aut García, Laura Olivié verfasserin aut Serratosa, José M. verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 154, Seite 39-41 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:154 pages:39-41 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 44.90 Neurologie AR 154 39-41
allfieldsSound	10.1016/j.eplepsyres.2019.04.003 doi (DE-627)ELV002440997 (ELSEVIER)S0920-1211(18)30466-2 DE-627 ger DE-627 rda eng 610 DE-600 44.90 bkl Soto-Insuga, Víctor verfasserin aut Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE) López, Rosa Guerrero verfasserin aut Losada-Del Pozo, Rebeca verfasserin aut Rodrigo-Moreno, María verfasserin aut Cayuelas, Elena Martínez verfasserin aut Giráldez, Beatriz G. verfasserin aut Díaz-Gómez, Ester verfasserin aut Sánchez-Martín, Gema verfasserin aut García, Laura Olivié verfasserin aut Serratosa, José M. verfasserin aut Enthalten in Epilepsy research Amsterdam [u.a.] : Elsevier Science, 1987 154, Seite 39-41 Online-Ressource (DE-627)320507858 (DE-600)2013048-X (DE-576)098615017 1872-6844 nnns volume:154 pages:39-41 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 44.90 Neurologie AR 154 39-41
language	English
source	Enthalten in Epilepsy research 154, Seite 39-41 volume:154 pages:39-41
sourceStr	Enthalten in Epilepsy research 154, Seite 39-41 volume:154 pages:39-41
format_phy_str_mv	Article
bklname	Neurologie
institution	findex.gbv.de
topic_facet	Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE)
dewey-raw	610
isfreeaccess_bool	false
container_title	Epilepsy research
authorswithroles_txt_mv	Soto-Insuga, Víctor @@aut@@ López, Rosa Guerrero @@aut@@ Losada-Del Pozo, Rebeca @@aut@@ Rodrigo-Moreno, María @@aut@@ Cayuelas, Elena Martínez @@aut@@ Giráldez, Beatriz G. @@aut@@ Díaz-Gómez, Ester @@aut@@ Sánchez-Martín, Gema @@aut@@ García, Laura Olivié @@aut@@ Serratosa, José M. @@aut@@
publishDateDaySort_date	2019-01-01T00:00:00Z
hierarchy_top_id	320507858
dewey-sort	3610
id	ELV002440997
language_de	englisch
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author	Soto-Insuga, Víctor
spellingShingle	Soto-Insuga, Víctor ddc 610 bkl 44.90 misc Glucose transporter type 1 deficiency syndrome (GLUT1-DS) misc Absence epilepsy misc Early onset absence epilepsy (EOAE) Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
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topic_title	610 DE-600 44.90 bkl Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features Glucose transporter type 1 deficiency syndrome (GLUT1-DS) Absence epilepsy Early onset absence epilepsy (EOAE)
topic	ddc 610 bkl 44.90 misc Glucose transporter type 1 deficiency syndrome (GLUT1-DS) misc Absence epilepsy misc Early onset absence epilepsy (EOAE)
topic_unstemmed	ddc 610 bkl 44.90 misc Glucose transporter type 1 deficiency syndrome (GLUT1-DS) misc Absence epilepsy misc Early onset absence epilepsy (EOAE)
topic_browse	ddc 610 bkl 44.90 misc Glucose transporter type 1 deficiency syndrome (GLUT1-DS) misc Absence epilepsy misc Early onset absence epilepsy (EOAE)
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title	Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
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title_full	Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
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author_browse	Soto-Insuga, Víctor López, Rosa Guerrero Losada-Del Pozo, Rebeca Rodrigo-Moreno, María Cayuelas, Elena Martínez Giráldez, Beatriz G. Díaz-Gómez, Ester Sánchez-Martín, Gema García, Laura Olivié Serratosa, José M.
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title_sort	glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
title_auth	Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
abstract	Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families.
abstractGer	Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families.
abstract_unstemmed	Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare genetic disorder caused by pathogenic variants in SLC2A1, resulting in impaired glucose uptake through the blood-brain barrier. Our objective is to analyze the frequency of GLUT1-DS in patients with absences with atypical features. Sequencing analysis and detection of copy number variation of the SLC2A1 gene was carried out in patients with atypical absences including: early-onset absence, intellectual disability, additional seizure types, refractory epilepsy, associated movement disorders, as well as those who have first-degree relatives with absence epilepsy or atypical EEG ictal discharges. Of the 43 patients analyzed, pathogenic variations were found in 2 (4.6%). Six atypical characteristics were found in these 2 patients. The greater the number of atypical characteristics presenting in patients with absence seizures, the more likely they have a SLC2A1 mutation. Although GLUT1-DS is an infrequent cause of absence epilepsy, recognizing this disorder is important, since initiation of a ketogenic diet can reduce the frequency of seizures, the severity of the movement disorder, and also improve the quality of life of the patients and their families.
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title_short	Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features
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author2	López, Rosa Guerrero Losada-Del Pozo, Rebeca Rodrigo-Moreno, María Cayuelas, Elena Martínez Giráldez, Beatriz G. Díaz-Gómez, Ester Sánchez-Martín, Gema García, Laura Olivié Serratosa, José M.
author2Str	López, Rosa Guerrero Losada-Del Pozo, Rebeca Rodrigo-Moreno, María Cayuelas, Elena Martínez Giráldez, Beatriz G. Díaz-Gómez, Ester Sánchez-Martín, Gema García, Laura Olivié Serratosa, José M.
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up_date	2024-07-07T00:44:14.312Z
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features

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