Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in the first months of life, abnormal background EEG activity, and are associated with severe developmental delay and poor prognosis. Mutations and deletions in the STXBP1 gene are associated with Ohtahara syndrome, also known as "early infantile epileptic encephalopathy". We report an infant affected by EOEE with a 9q34.11 deletion that encompassed the genes STXBP1 and SPTAN1. The infant presented with neonatal encephalopathy without epileptic seizures and an EEG pattern varying from highly discontinuous to suppression-burst. This was followed by West syndrome at 2 months with atypical hypsarrhythmia and spasms, easily controlled by therapy. Ou...
Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor d...
International audienceObjective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in ...
Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in ...
Mutations and deletions in the STXBP1 gene are associated with Early Onset Epileptic Encephalopathy ...
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephal...
Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent interictal...
Objectives: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently...
Objective. Study the clinical and neurophysiological evolution of early infantile epileptic encephal...
The new concept of developmental and epileptic encephalopathy is based on the understanding that man...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor d...
International audienceObjective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in ...
Early-onset epileptic encephalopathies (EOEEs) are characterised by epileptic seizures beginning in ...
Mutations and deletions in the STXBP1 gene are associated with Early Onset Epileptic Encephalopathy ...
Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephal...
Epileptic encephalopathies are characterized by recurrent clinical seizures and prominent interictal...
Objectives: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently...
Objective. Study the clinical and neurophysiological evolution of early infantile epileptic encephal...
The new concept of developmental and epileptic encephalopathy is based on the understanding that man...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...
Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor d...
International audienceObjective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been...
Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encepha...