Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Frontiers in Physiology

Volumn 6, Issue JAN, 2015, Pages

  D'Adamo, Maria C ^a,b   Gallenmüller, Constanze ^c,d,e   Servettini, Ilenio ^a   Hartl, Elisabeth ^c   Tucker, Stephen J ^f   Arning, Larissa ^g   Biskup, Saskia ^h   Grottesi, Alessandro ⁱ   Guglielmi, Luca ^a   Imbrici, Paola ^j   Bernasconi, Pia ^k   Di Giovanni, Giuseppe ^b,l   Franciolini, Fabio ^m   Catacuzzeno, Luigi ^m   Pessia, Mauro ^a,b   Klopstock, Thomas ^c,d,e  

^a UNIVERSITY OF PERUGIA   (Italy)

^b Istituto Euro Mediterraneo di Scienza e Tecnologia (IEMEST)   (Italy)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d German Network for Mitochondrial Disorders (mitoNET)   (Germany)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g RUHR UNIVERSITY BOCHUM   (Germany)

^h CEGAT GMBH   (Germany)

ⁱ CINECA   (Italy)

^j UNIVERSITY OF BARI   (Italy)

^k DEPARTMENT OF NEUROSURGERY   (Italy)

^l UNIVERSITY OF MALTA   (Malta)

^m UNIVERSITY OF PERUGIA   (Italy)

more..

Author keywords

C185W; Episodic ataxia type 1; Hyperthermia; Migraine; Shaker potassium channels; Sleep

Indexed keywords

ACETAZOLAMIDE; POTASSIUM CHANNEL KV1.1;

ADULT; ARTICLE; ATAXIA; CACNA1A GENE; CACNB4 GENE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; GENE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HYPERTHERMIA; KCNA1 GENE; KCNC3 GENE; KCNJ10 GENE; LOSS OF FUNCTION MUTATION; MALE; MIGRAINE; MUSCLE CONTRACTION; MUTATIONAL ANALYSIS; NAUSEA; NEXT GENERATION SEQUENCING; PHENOTYPE; PHONOPHOBIA; PHOTOPHOBIA; PRRT2 GENE; RESIDUE ANALYSIS; SCN8A GENE; SLC1A3 GENE; SLEEP DISORDER; SLEEP TIME; STRUCTURE ANALYSIS; SYMPTOM;

EID: 84926430940     PISSN: None     EISSN: 1664042X     Source Type: Journal    
DOI: 10.3389/fphys.2014.00525     Document Type: Article

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