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.

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit? / Passamonti, Claudia; Petrelli, Cristina; Mei, Davide; Foschi, Nicoletta; Guerrini, Renzo; Provinciali, Leandro; Zamponi, Nelia. - In: EPILEPSY & BEHAVIOR. - ISSN 1525-5050. - STAMPA. - 43:(2015), pp. 89-92. [10.1016/j.yebeh.2014.11.009]

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

GUERRINI, RENZO;
2015

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.
2015
43
89
92
Passamonti, Claudia; Petrelli, Cristina; Mei, Davide; Foschi, Nicoletta; Guerrini, Renzo; Provinciali, Leandro; Zamponi, Nelia
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1013065
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