Neurodevelopmental profile at 5 years of a boy with Dravet syndrome– like phenotype: Does SCN1A gene have something in common?

Ralitsa Yordanova, Ivan Ivanov, Margarita Panova, Iglika Sotkova, Fani Galabova, Anelia Petkova, Neviana Ivanova, Irina Tzekova

Abstract


A boy with Dravet-lile syndrome (DS) was examined with a neurodevelopmental test at 5 years of age and the most affected developmental domains were found to be coordination and perception. Two main hypothesis (channalopathy vs. epileptic encephalopathy) as pathogenеtic factors for the developmental impairment are discussed with the first one being more applicable in this case.

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References


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