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  • Title: Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.
    Author: Gburek-Augustat J, Beck-Woedl S, Tzschach A, Bauer P, Schoening M, Riess A.
    Journal: Eur J Paediatr Neurol; 2016 Jul; 20(4):661-5. PubMed ID: 27184330.
    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.
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