Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy

Archives of Medical Research

Volumn 41, Issue 3, 2010, Pages 207-214

  Ebrahimi, Ahmad ^a   Houshmand, Massoud ^a   Tonekaboni, Seyed Hassan ^b   Fallah Mahboob Passand, Mohammd Sadegh ^a   Zainali, Sirous ^c   Moghadasi, Mehdi ^d  

^a NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c PASTEUR INSTITUTE OF IRAN   (Iran)

^d IRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Epilepsy; Generalized epileptic febrile seizures plus; Multiplex ligation dependent probe amplification; SCN1A; Severe myoclonic epilepsy of infancy

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); MULTIDRUG RESISTANCE PROTEIN 1; SODIUM CHANNEL NAV1.1;

ADOLESCENT; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; INFANT; IRAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PROTEIN DOMAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EPILEPSIES, MYOCLONIC; EPILEPSY; FEMALE; GENE FREQUENCY; HUMANS; INFANT; IRAN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, TERTIARY; SEIZURES, FEBRILE; SEQUENCE HOMOLOGY, AMINO ACID; SODIUM CHANNELS;

EID: 77953525691     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcmed.2010.04.007     Document Type: Article

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