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Article

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

27 Feb 2019

Abstract excerpt

BACKGROUND: 1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. METHODS: To further elucidate the genotype-phenotype correlation of SCN2A variants we investigated the...

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PMID: 30813884
DOI: 10.1186/s10020-019-0073-6

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