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- W2343935798 abstract "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.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.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.Hence, epilepsy is not a mandatory feature of patients with a STXBP1 mutation." @default.
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- W2343935798 date "2016-07-01" @default.
- W2343935798 modified "2023-10-14" @default.
- W2343935798 title "Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome" @default.
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- W2343935798 doi "https://doi.org/10.1016/j.ejpn.2016.04.005" @default.
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