TY - GEN AU - Rajakulendran,S AU - Tan,S V AU - Matthews,E AU - Tomlinson,S E AU - Labrum,R AU - Sud,R AU - Kullmann,D M AU - Schorge,S AU - Hanna,M G TI - A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A SN - 1526-632X PY - 2009///1113 KW - Action Potentials KW - genetics KW - Adult KW - Ataxia KW - DNA Mutational Analysis KW - Electromyography KW - Female KW - Genetic Predisposition to Disease KW - Genotype KW - Humans KW - Kv1.1 Potassium Channel KW - Muscle Contraction KW - Muscle Cramp KW - Muscle Weakness KW - Muscle, Skeletal KW - metabolism KW - Mutation KW - Myokymia KW - Myotonic Disorders KW - NAV1.4 Voltage-Gated Sodium Channel KW - Sodium Channels N1 - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1212/WNL.0b013e3181b87959 ER -