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

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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https://hal-univ-fcomte.archives-ouvertes.fr/hal-03630216
Contributor : Eloi Magnin Connect in order to contact the contributor
Submitted on : Monday, April 4, 2022 - 7:02:04 PM
Last modification on : Monday, April 4, 2022 - 7:02:05 PM

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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, Karger, 2016, 75 (3-4), pp.186-190. ⟨10.1159/000445109⟩. ⟨hal-03630216⟩

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