TY - JOUR
T1 - A novel inherited SCN1A mutation associated with different neuropsychological phenotypes
T2 - Is there a common core deficit?
AU - Passamonti, Claudia
AU - Petrelli, Cristina
AU - Mei, Davide
AU - Foschi, Nicoletta
AU - Guerrini, Renzo
AU - Provinciali, Leandro
AU - Zamponi, Nelia
PY - 2015/2/1
Y1 - 2015/2/1
N2 - 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.
AB - 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.
KW - Dravet syndrome spectrum
KW - Neuropsychological phenotype
KW - SCN1A gene
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U2 - 10.1016/j.yebeh.2014.11.009
DO - 10.1016/j.yebeh.2014.11.009
M3 - Article
C2 - 25569746
AN - SCOPUS:84920613670
VL - 43
SP - 89
EP - 92
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
SN - 1525-5050
ER -