title: Intractable epilepsy, audio-visual hallucinations and Charcot-Marie-Tooth disease 1A in an African-American boy.
abstract: Charcot-Marie-Tooth disease 1A (CMT1A) is the most common autosomal dominant demyelinating sensorimotor polyneuropathy. A few patients with Charcot-Marie-Tooth disease were reported in the literature to have epilepsy. We report on an African-American boy with CMT1A, with duplication of peripheral myelin protein 22 gene, who also developed intractable generalized tonic-clonic seizures and audiovisual hallucinations.
authors.affiliation: The Ohio State University, College of Medicine, Columbus, Ohio, USA. changyong.tsao@nationwidechildrens.org
authors.forename: Chang Y
authors.initials: CY
authors.lastname: Tsao
mesh_terms: D001741:Black or African American; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D002648:Child; D015897:Comorbidity; D004830:Epilepsy, Tonic-Clonic / Q000453:epidemiology*; D020440:Gene Duplication; D006212:Hallucinations / Q000453:epidemiology*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human