Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase

Seizure

Volumn 17, Issue 7, 2008, Pages 658-664

  Bahi Buisson, Nadia ^a,b   El Sabbagh, Sandra ^a,b   Soufflet, Christine ^a   Escande, Fabienne ^c   Boddaert, Nathalie ^a,d   Valayannopoulos, Vassili ^a   Bellané Chantelot, Christine ^e   Lascelles, Karine ^f   Dulac, Olivier ^a,b   Plouin, Perrine ^a,b   de Lonlay, Pascale ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c Hop Universitaire Regional de Lille   (France)

^d DIF   (France)

^e HÔPITAL SAINT ANTOINE   (France)

^f EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Glutamate dehydrogenase; Hyperinsulinism hyperammonemia syndrome; Myoclonic absence; Photosensitivity

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; ETIRACETAM; GLUTAMATE DEHYDROGENASE; VALPROIC ACID;

ABSENCE; ADULT; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DRUG EFFICACY; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EXON; FAMILY; FEMALE; GENE MUTATION; GRAND MAL SEIZURE; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPERINSULINISM HYPERAMMONEMIA SYNDROME; HYPOGLYCEMIA; MALE; MOTHER; MUTATIONAL ANALYSIS; MYOCLONUS EPILEPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PANCREAS RESECTION; PHENOTYPE; PHOTOSENSITIVITY; PRIORITY JOURNAL; RECURRENT DISEASE; SIBLING; SPIKE WAVE; TONIC CLONIC SEIZURE;

ADULT; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FAMILY HEALTH; FEMALE; GLUTAMATE DEHYDROGENASE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION; PHOTOSENSITIVITY DISORDERS;

EID: 50649103055     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2008.01.005     Document Type: Article

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