Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

European Journal of Paediatric Neurology

Volumn 13, Issue 2, 2009, Pages 191-193

  Zafeiriou, D I ^a   Lehmann Horn, F ^b   Vargiami, E ^a   Teflioudi, E ^a   Ververi, A ^a   Jurkat Rott, K ^b  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b UNIVERSITY OF ULM   (Germany)

Author keywords

Acetazolamide; CACNA1A gene; Diarrhea; Episodic ataxia type 2; Hyperhidrosis; Migraine

Indexed keywords

ACETAZOLAMIDE; CALCIUM CHANNEL P TYPE; CALCIUM CHANNEL Q TYPE; MEFENAMIC ACID; PARACETAMOL;

ADULT; ARTICLE; ATAXIA; BRAIN ATROPHY; CACNA1A GENE; CASE REPORT; CHILD; CHRONIC DIARRHEA; CLINICAL FEATURE; EPISODIC ATAXIA TYPE 2; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERHIDROSIS; HYPOTHERMIA; MALE; MIGRAINE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; SCHOOL CHILD; SPINOCEREBELLAR DEGENERATION;

ADULT; CALCIUM CHANNELS; CHILD; DIARRHEA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYPERHIDROSIS; HYPOTHERMIA; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SPINOCEREBELLAR ATAXIAS;

EID: 60749120347     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.02.011     Document Type: Article

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