Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: A case report with a molecular genetic study

Neurological Sciences

Volumn 28, Issue 5, 2007, Pages 276-278

  Bartocci, A ^a   Elia, M ^b   Cali F ^b   Tiacci, C ^a   Cantisani, A T ^a   Perticoni, G ^a  

^a Ospedale Silvestrini   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

Focal EEG; JME; Molecular genetic study

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; 4 AMINOBUTYRIC ACID RECEPTOR ALPHA1; ADENINE; GUANINE; LAMOTRIGINE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; DRUG RESPONSE; EEG ABNORMALITY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; LOW DRUG DOSE; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; PATHOLOGICAL ANATOMY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CALCIUM-BINDING PROTEINS; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; MYOCLONIC EPILEPSY, JUVENILE; PARASOMNIAS; POLYMORPHISM, GENETIC; RECEPTORS, GABA-A; TEMPORAL LOBE;

EID: 35848962266     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-007-0835-8     Document Type: Article

References (6)

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6. Cossette P, Liu L, Brisebois K et al (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184-189