Late-onset epileptic spasms in a female patient with a CASK mutation

Brain & Development
Tomoshi NakajiriHarumi Yoshinaga

Abstract

We report a female patient with late-onset epileptic spasms (ESs) of a rare form, distinct from those seen in typical West syndrome, in association with a heterozygous frameshift CASK mutation (c.1896dupC (p.C633fs(∗)2)). She has a phenotype of microcephaly with pontine and cerebellar hypoplasia (MICPCH), and has had intractable ESs in clusters since 3 years 8 months of age with multifocal, particularly bifrontal, epileptic discharges in electroencephalogram. The available literature on patients with both ESs and CASK mutations has been reviewed, revealing that four of the five female children, including the present girl, had late-onset ESs, in contrast to the four males, who tended toward early-onset ESs.

References

Mar 30, 2010·Epilepsia·Stéphane AuvinAgnès Bouvet-Mourcia
Jun 20, 2012·Epilepsia·Hirotomo SaitsuNaomichi Matsumoto
Nov 21, 2012·American Journal of Medical Genetics. Part a·Jun-ichi TakanashiJohji Inazawa
Apr 8, 2014·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Roseline CaumesStéphane Auvin
May 2, 2014·Human Molecular Genetics·Jacques L MichaudElsa Rossignol

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Citations

Apr 3, 2016·Acta Neuropathologica Communications·Sarika SrivastavaKonark Mukherjee
Sep 26, 2017·Intractable & Rare Diseases Research·Toshiyuki SetoToshiyuki Yamamoto
Jun 14, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Na HeWei-Ping Liao
Dec 5, 2020·Brain & Development·Yosuke NishioJun Natsume
Mar 1, 2021·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Thea GiacominiLivia Pisciotta

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