Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy

Seizure

Volumn 21, Issue 7, 2012, Pages 550-554

  Jara Prado, Aurelio ^a   Martínez Juárez, Iris E ^a   Ochoa, Adriana ^a   González, Víctor M ^a   Fernández González Aragón, María Del Carmen ^a   López Ruiz, Minerva ^b   Medina, Marco T ^c   Bailey, Julia N ^d   Delgado Escueta, Antonio V ^d   Alonso, María Elisa ^a  

^a NATIONAL INSTITUTE OF NEUROLOGY AND NEUROSURGERY   (Mexico)

^b Mexico General Hospital   (Mexico)

^c NATIONAL AUTONOMOUS UNIVERSITY OF HONDURAS   (Honduras)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

EFHC1 gene; Juvenile myoclonic epilepsy; Mutations

Indexed keywords

EFHC1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA EXTRACTION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HISPANIC; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEXICO; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOCLONIC EPILEPSY, JUVENILE; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84863989701     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2012.05.016     Document Type: Article

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