Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.
Mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures. However, not all the pedigrees with a phenotype consistent with ADLTE show mutations in LGI1/Epitempin, or evidence for linkage to the 10q24 locus. Other authors as well as ourselves have found an internal repeat (EPTP, pfam# PF03736) that allowed the identification of three other genes sharing a sequence and structural similarity with LGI1/Epitempin. In this work, we present the sequencing of these genes in a set of ADLTE families without mutations in both LGI1/Epitempin and sporadic cases. No analyzed polymorphisms modified susceptibility in either the familial or sporadic forms of this partial epilepsy.
Ayerdi-Izquierdo
A
A
Unitat de Genètica Molecular, Dept. de Genòmica i Proteòmica, Institut de Biomedicina de València - CSIC, Jaume Roig, 11. E46010 València, Spain.
Stavrides
G
G
Sellés-Martínez
J J
JJ
Larrea
L
L
Bovo
G
G
López de Munain
A
A
Bisulli
F
F
Martí-Massó
J F
JF
Michelucci
R
R
Poza
J J
JJ
Tinuper
P
P
Stephani
U
U
Striano
P
P
Striano
S
S
Staub
E
E
Sarafidou
T
T
Hinzmann
B
B
Moschonas
N
N
Siebert
R
R
Deloukas
P
P
Nobile
C
C
Pérez-Tur
J
J
D000483:Alleles; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins