A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

Claudia Passamonti, Cristina Petrelli, Davide Mei, Nicoletta Foschi, Renzo Guerrini, Leandro Provinciali, Nelia Zamponi

Research output: Contribution to journalArticlepeer-review

Abstract

We report a three-generation, clinically heterogeneous family in which we identify a novel inherited splicing mutation of the SCN1A gene. Thirteen subjects were submitted to genetic analysis, clinical and instrumental examination, and neuropsychological assessment.In eight subjects, a heterozygous c.2946+5G>A donor splice site alteration in the SCN1A gene was found. Half of them had never had a seizure and showed normal EEG and cognitive profile, whereas the other half had a history of seizures and variable neuropsychological impairments ranging from moderate cognitive disabilities to mild visual-motor impairments. Different clinical phenotypes were identified, including generalized epilepsy with febrile seizure plus (GEFS. +), Dravet syndrome, and partial epilepsy with febrile seizure plus (PEFS. +).Remarkable clinical heterogeneity can be found among family members carrying the same SCN1A gene mutation. Variable involvement of visual-motor abilities might represent a neuropsychological feature which needs to be further explored in other familial cases.

Original languageEnglish
Pages (from-to)89-92
Number of pages4
JournalEpilepsy and Behavior
Volume43
DOIs
Publication statusPublished - Feb 1 2015

Keywords

  • Dravet syndrome spectrum
  • Neuropsychological phenotype
  • SCN1A gene

ASJC Scopus subject areas

  • Clinical Neurology
  • Behavioral Neuroscience
  • Neurology
  • Medicine(all)

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