Articles with "epilepsy phenotypes" as a keyword



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Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases

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Published in 2018 at "Neurological Sciences"

DOI: 10.1007/s10072-018-3300-y

Abstract: Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two… read more here.

Keywords: variable epilepsy; scn9a mutations; epilepsy phenotypes; report two ... See more keywords