PMID- 8967750
OWN - NLM
STAT- MEDLINE
DCOM- 19961212
LR  - 20101118
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 39
IP  - 2
DP  - 1996 Feb
TI  - Clinical and genetic analysis of a large pedigree with juvenile myoclonic 
      epilepsy.
PG  - 187-95
AB  - Juvenile myoclonic epilepsy is a common type of idiopathic generalized epilepsy 
      characterized by myoclonic, generalized tonic-clonic, and in 30% of patients, 
      absence seizures. We studied a three-generation pedigree of 33 members, 10 of 
      whom were clinically affected with juvenile myoclonic epilepsy or presented with 
      subclinical electroencephalographic (EEG) 3.5- to 6.0-Hz diffuse polyspike-wave 
      or spike-wave complexes. Juvenile myoclonic epilepsy and the EEG trait segregated 
      as an autosomal dominant trait with 70% penetrance. Linkage analysis using this 
      model showed significant linkage to four microsatellite markers centromeric to 
      human leukocyte antigen (HLA) in chromosome 6p. Maximum lod scores of 3.43 at 
      theta(m=f)=0.00 for D6S272, D6S466, D6S257, and D6S402 were obtained. Recombinant 
      events in 2 affected members defined the gene region to a 43-cM interval flanked 
      by D6S258 (HLA region) and D6S313 (centromere). Our results in this large family 
      provide evidence that a gene responsible for juvenile myoclonic epilepsy and the 
      subclinical, 3.5- to 6.0-Hz, polyspike-wave or spike-wave EEG pattern is located 
      in chromosome 6p.
FAU - Serratosa, J M
AU  - Serratosa JM
AD  - California Comprehensive Epilepsy Program, University of California, Los Angeles, 
      90073, USA.
FAU - Delgado-Escueta, A V
AU  - Delgado-Escueta AV
FAU - Medina, M T
AU  - Medina MT
FAU - Zhang, Q
AU  - Zhang Q
FAU - Iranmanesh, R
AU  - Iranmanesh R
FAU - Sparkes, R S
AU  - Sparkes RS
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Electroencephalography
MH  - Epilepsies, Myoclonic/*genetics/*physiopathology
MH  - Female
MH  - Genes, Dominant
MH  - Genetic Linkage
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Pedigree
MH  - Recombination, Genetic
EDAT- 1996/02/01 00:00
MHDA- 1996/02/01 00:01
CRDT- 1996/02/01 00:00
PHST- 1996/02/01 00:00 [pubmed]
PHST- 1996/02/01 00:01 [medline]
PHST- 1996/02/01 00:00 [entrez]
AID - 10.1002/ana.410390208 [doi]
PST - ppublish
SO  - Ann Neurol. 1996 Feb;39(2):187-95. doi: 10.1002/ana.410390208.