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PubMed 25569746


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Automatically associated channels: Kir2.3



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

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

Journal, date & volume: Epilepsy Behav, 2015 Feb , 43, 89-92

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25569746


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.