An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

Human Molecular Genetics

Volumn 6, Issue 6, 1997, Pages 943-947

  Steinlein, Ortrud K ^a   Magnusson, Andres ^b,c   Stoodt, Jens ^a   Bertrand, Sonia ^d   Weiland, Sigrid ^a   Berkovic, Samuel F ^e   Nakken, Karl O ^c   Propping, Peter ^a   Bertrand, Daniel ^d  

^a UNIVERSITY OF BONN   (Germany)

^b ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^c National Center for Epilepsy   (Norway)

^d Medical Faculty   (Switzerland)

^e UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; COMPARATIVE STUDY; FEMALE; FRONTAL LOBE EPILEPSY; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; NORWAY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CALCIUM; CELL MEMBRANE PERMEABILITY; DNA, COMPLEMENTARY; EPILEPSY, FRONTAL LOBE; FAMILY; FEMALE; GENES, DOMINANT; HUMANS; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; PEDIGREE; RECEPTORS, NICOTINIC;

EID: 0030916583     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.6.943     Document Type: Article

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