TY - JOUR
T1 - Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation
AU - De Vita, Dalila
AU - Mei, Davide
AU - Rutigliano, Domenico
AU - Bartalucci, Niccolò
AU - Cinnante, Claudia Maria
AU - Parrini, Elena
AU - Dilena, Robertino
AU - Guerrini, Renzo
PY - 2018
Y1 - 2018
N2 - We describe a mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto-occipital in the mother and with remarkable posterior greater than anterior severity in the son. Overall clinical manifestations, although overlapping in type, were likewise slightly more severe in the son. Using targeted resequencing through a gene panel for malformations of cortical development, we identified the c.655 T > A [p.(Trp219Arg)] novel missense variant in the LIS1 gene, segregating in the proband and in his mother. Western Blot analysis, qPCR gene expression and RT-PCR disclosed no significant differences between proband, his parents, and controls. Epilepsy and mild cognitive impairment can be the only clinical presentation of constitutional LIS1 mutations, which can therefore be inherited if the associated phenotype implies limited or no reproductive disadvantage. Parents of patients harboring LIS1 mutations should be assessed for their mutation carrier status.
AB - We describe a mother and son with focal epilepsy, mild cognitive impairment, and pachygyria, which was parieto-occipital in the mother and with remarkable posterior greater than anterior severity in the son. Overall clinical manifestations, although overlapping in type, were likewise slightly more severe in the son. Using targeted resequencing through a gene panel for malformations of cortical development, we identified the c.655 T > A [p.(Trp219Arg)] novel missense variant in the LIS1 gene, segregating in the proband and in his mother. Western Blot analysis, qPCR gene expression and RT-PCR disclosed no significant differences between proband, his parents, and controls. Epilepsy and mild cognitive impairment can be the only clinical presentation of constitutional LIS1 mutations, which can therefore be inherited if the associated phenotype implies limited or no reproductive disadvantage. Parents of patients harboring LIS1 mutations should be assessed for their mutation carrier status.
KW - epilepsy
KW - LIS1
KW - malformations of cortical development
KW - pachygyria
KW - PAFAH1B1
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U2 - 10.1002/ajmg.a.40503
DO - 10.1002/ajmg.a.40503
M3 - Article
AN - SCOPUS:85052473426
VL - 176
SP - 2808
EP - 2812
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -