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....
Ausführliche Beschreibung
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] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2019 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: Epilepsy research - Amsterdam [u.a.] : Elsevier Science, 1987, 154, Seite 39-41 |
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Übergeordnetes Werk: |
volume:154 ; pages:39-41 |
DOI / URN: |
10.1016/j.eplepsyres.2019.04.003 |
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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) | |
700 | 1 | |a López, Rosa Guerrero |e verfasserin |4 aut | |
700 | 1 | |a Losada-Del Pozo, Rebeca |e verfasserin |4 aut | |
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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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 |
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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 |
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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) |
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features |
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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features |
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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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glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features |
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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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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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