Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Neurology

Volumn 70, Issue 22 Pt 2, 2008, Pages 2137-2144

  Medina, M T ^a   Suzuki, T ^a   Alonso, M E ^a   Duron R M ^a   Martinez Juarez I E ^a   Bailey, J N ^a   Bai, D ^a   Inoue, Y ^a   Yoshimura, I ^a   Kaneko, S ^a   Montoya, M C ^a   Ochoa, A ^a   Prado, A Jara ^a   Tanaka, M ^a   Machado Salas, J ^a   Fujimoto, S ^a   Ito, M ^a   Hamano, S ^a   Sugita, K ^a   Ueda, Y ^a   Osawa, M ^a   Oguni, H ^a   Rubio Donnadieu, F ^a   Yamakawa, K ^a   Delgado Escueta, A V ^a   more..

^a NATIONAL AUTONOMOUS UNIVERSITY OF HONDURAS   (Honduras)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CALCIUM BINDING PROTEIN; CHLORIDE CHANNEL; CLC 2 CHLORIDE CHANNELS; CLC-2 CHLORIDE CHANNELS; EFHC1 PROTEIN, HUMAN; GABRA1 PROTEIN, HUMAN;

ARTICLE; FAMILY HEALTH; FEMALE; GENETICS; GENOTYPE; HONDURAS; HUMAN; JAPAN; MALE; METHODOLOGY; MEXICO; MUTATION; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROMOTER REGION;

CALCIUM-BINDING PROTEINS; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HONDURAS; HUMANS; JAPAN; MALE; MEXICO; MUTATION; MYOCLONIC EPILEPSY, JUVENILE; PHENOTYPE; PROMOTER REGIONS (GENETICS); RECEPTORS, GABA-A;

MLCS; MLOWN;

EID: 45949088634     PISSN: None     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000313149.73035.99     Document Type: Article

References (0)