Article
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Epilepsia - 1 Oct 2011
Mignot Cyril, Moutard Marie-Laure, Trouillard Oriane, Gourfinkel-An Isabelle, Jacquette Aurélia, Arveiler Benoit, Morice-Picard Fanny, Lacombe Didier, Chiron Catherine, Ville Dorothée, Charles Perrine, LeGuern Eric, Depienne Christel, Héron Delphine
Abstract excerpt
PURPOSE: Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. To date, 25 patients with heterozygous mutation or deletion of STXBP1 have been reported. A diagnosis of early infantile epileptic...
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