Rajakulendran, S

A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A. [electronic resource] - Neurology Sep 2009 - 993-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1526-632X

10.1212/WNL.0b013e3181b87959 doi


Action Potentials--genetics
Adult
Ataxia--genetics
DNA Mutational Analysis
Electromyography
Female
Genetic Predisposition to Disease--genetics
Genotype
Humans
Kv1.1 Potassium Channel--genetics
Muscle Contraction--genetics
Muscle Cramp--genetics
Muscle Weakness--genetics
Muscle, Skeletal--metabolism
Mutation--genetics
Myokymia--genetics
Myotonic Disorders--genetics
NAV1.4 Voltage-Gated Sodium Channel
Sodium Channels--genetics