Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations

Seizure

Volumn 19, Issue 2, 2010, Pages 129-131

  Castro, Pedro J Serrano ^a   Fernandez, Cristina Naranjo ^a   Subirana, Pablo Quiroga ^a   Ortiz, Manuel Payan ^a  

^a HOSPITAL TORRECÁRDENAS   (Spain)

Author keywords

Connexin; Focal epilepsy; Palmoplantar keratoderma; Vohwinkel Syndrome

Indexed keywords

ASPARTIC ACID; CARBAMAZEPINE; CONNEXIN 26; CYSTEINE; GLYCINE; HISTIDINE; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID;

ADULT; ARTICLE; AUTOMATISM; CASE REPORT; CRYPTOGENIC FOCAL EPILEPSY; EPILEPSY; EPILEPTOGENESIS; GENETIC ANALYSIS; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; KERATODERMA HEREDITARIUM MUTILANS; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

ASPARTIC ACID; CONNEXINS; EPILEPSY; HISTIDINE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; YOUNG ADULT;

EID: 76349101147     PISSN: 10591311     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.seizure.2009.11.009     Document Type: Article

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