Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor...

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Veröffentlicht in:	Nature genetics 2002-06, Vol.31 (2), p.184-189
Hauptverfasser:	Brisebois, Katéri, Lortie, Anne, Vanasse, Michel, Carmant, Lionel, Rouleau, Guy A, Verner, Andrei, Cossette, Patrick, Tian Wang, Yu, Liu, Lidong, Lu, Wei-Yang, Saint-Hilaire, Jean-Marc, Dong, Haiheng
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Agriculture Amino Acid Sequence Amino Acid Substitution - genetics Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Care and treatment Child Child, Preschool Children Complications and side effects Convulsions & seizures Diagnosis Epilepsy Epilepsy, Generalized - etiology Epilepsy, Generalized - genetics Fundamental and applied biological sciences. Psychology GABRA1 gene Gene Function Gene mutations Genes, Dominant Genes. Genome Genetic Predisposition to Disease Health aspects Human Genetics Humans juvenile myoclonic epilepsy letter Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Mutation, Missense - genetics Myoclonic epilepsy Myoclonic Epilepsy, Juvenile - etiology Myoclonic Epilepsy, Juvenile - genetics Pedigree Receptors, GABA-A - genetics Risk factors
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