Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

Journal of Medical Genetics

Volumn 41, Issue 3, 2004, Pages 183-186

  Garcia, C C ^a   Blair, H J ^a   Seager, M ^b   Coulthard, A ^c   Tennant, S ^a   Buddles, M ^a   Curtis, A ^a   Goodship, J A ^a  

^a INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^b Northgate Hospital   (United Kingdom)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTRANSMITTER; SYNAPSIN I;

ADULT; AGED; AGGRESSION; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME POLYMORPHISM; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EPILEPSY; FAMILIAL DISEASE; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INTELLIGENCE; LEARNING DISORDER; MACROCEPHALY; MALE; MUTATION; NEUROTRANSMITTER RELEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; REGULATORY MECHANISM; SCORING SYSTEM; SEQUENCE ANALYSIS; SYNAPSE VESICLE; SYNAPTOGENESIS; X CHROMOSOME; X CHROMOSOME LINKED DISORDER; X CHROMOSOME RECESSIVE INHERITANCE;

EID: 1542407037     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.013680     Document Type: Article

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