A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Neurology

Volumn 86, Issue 2, 2016, Pages 161-169

  Habbout, Karima ^a   Poulin, Hugo ^b   Rivier, François ^c   Giuliano, Serena ^a   Sternberg, Damien ^d   Fontaine, Bertrand ^d   Eymard, Bruno ^c   Morales, Raul Juntas ^c   Echenne, Bernard ^d   King, Louise ^e,f   Hanna, Michael G ^e,f   Männikkö, Roope ^e,f   Chahine, Mohamed ^b   Nicole, Sophie ^d   Bendahhou, Said ^a  

^a Laboratory of Excellence in Ion Channel Science and Therapeutics   (France)

^b CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE QUÉBEC   (Canada)

^c UNIV MONTPELLIER   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; PYRIDOSTIGMINE; SODIUM CHANNEL NAV1.4; SCN4A PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DYSPHAGIA; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; ELECTRONEUROMYOGRAPHY; EMBRYO; FACIAL NERVE PARALYSIS; FATIGUE; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROLOGOUS EXPRESSION; HUMAN; HUMAN CELL; INACTIVATION TIME CONSTANT; MAMMAL CELL; MOLECULAR PATHOLOGY; MOTOR DEVELOPMENT; MUSCLE CONTRACTURE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEUROPATHOLOGY; NEUROPHYSIOLOGY; OPHTHALMOPLEGIA; PERIODIC PARALYSIS; PHENOTYPE; POTASSIUM TRANSPORT; PRIORITY JOURNAL; PTOSIS; RECESSIVE INHERITANCE; REGULATORY MECHANISM; SODIUM CHANNELOPATHY; SUCKING; WHOLE CELL PATCH CLAMP; GENETIC PREDISPOSITION; GENETICS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; PARALYSES, FAMILIAL PERIODIC; PATCH CLAMP TECHNIQUE; PROCEDURES;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUSCLE WEAKNESS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; NEUROMUSCULAR JUNCTION; PARALYSES, FAMILIAL PERIODIC; PATCH-CLAMP TECHNIQUES;

EID: 84954308949     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002264     Document Type: Article

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