Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to <b><i>ANO10</i></b> Mutation - Archive ouverte HAL Access content directly
Journal Articles European Neurology Year : 2016

Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation

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Ludivine Chamard
  • Function : Author
Géraldine Sylvestre
  • Function : Author
Michel Koenig
  • Function : Author
Eloi Magnin

Abstract

ANO10 mutations have recently been reported in autosomal recessive cerebellar ataxia type 3 (ARCA3). The objective of this study was to describe the phenotype of 2 siblings with compound heterozygous ANO10 mutations and progressive cerebellar ataxia, epilepsy, and cognitive impairment. A porencephalic cyst was also described in one of them and a coenzyme Q10 deficiency in the other one.
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hal-03630216 , version 1 (04-04-2022)

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Ludivine Chamard, Géraldine Sylvestre, Michel Koenig, Eloi Magnin. Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation. European Neurology, 2016, 75 (3-4), pp.186-190. ⟨10.1159/000445109⟩. ⟨hal-03630216⟩

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