Janina Gburek-Augustat1, Stefanie Beck-Woedl2, Andreas Tzschach3, Peter Bauer2, Martin Schoening4, Angelika Riess2. 1. Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany; Clinic for Paediatric Nephrology, Hepatology and Metabolic Disorders, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany. Electronic address: gburek-augustat.janina@mh-hannover.de. 2. Department of Medical Genetics and Applied Genomics, University of Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany. 3. Department of Medical Genetics and Applied Genomics, University of Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany; Institute of Clinical Genetics, University of Dresden, Germany. 4. Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany.
Abstract
BACKGROUND: Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. In the following years a wider phenotype was recognized having milder forms of epilepsies. All patients showed also intellectual disability and movement disorders. METHODS: Here, we present three female patients with an ataxia-tremor-retardation syndrome caused by a de novo STXBP1 mutation. Two of the girls were diagnosed through next-generation-sequencing as mutations in STXBP1 were not suspected. The third patient was diagnosed by targeted genetic testing due to its clinical features strikingly similar to the first two girls. RESULTS: The characteristic feature of our three patients is the lack of epilepsy which is in contrast to the majority of the patients with STXBP1 mutation. CONCLUSION: Hence, epilepsy is not a mandatory feature of patients with a STXBP1 mutation.
BACKGROUND: Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. In the following years a wider phenotype was recognized having milder forms of epilepsies. All patients showed also intellectual disability and movement disorders. METHODS: Here, we present three female patients with an ataxia-tremor-retardation syndrome caused by a de novo STXBP1 mutation. Two of the girls were diagnosed through next-generation-sequencing as mutations in STXBP1 were not suspected. The third patient was diagnosed by targeted genetic testing due to its clinical features strikingly similar to the first two girls. RESULTS: The characteristic feature of our three patients is the lack of epilepsy which is in contrast to the majority of the patients with STXBP1 mutation. CONCLUSION: Hence, epilepsy is not a mandatory feature of patients with a STXBP1 mutation.
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