A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.
BACKGROUND
Mutations responsible for autosomal dominant lateral temporal epilepsy have been found in the leucine-rich, glioma-inactivated 1 (LGI1) gene.


OBJECTIVE
To describe the clinical and genetic findings in a family with autosomal dominant lateral temporal epilepsy and to determine the functional effects of a novel LGI1 mutation in culture cells.


METHODS
Clinical, genetic, and functional investigations.


METHODS
University hospital and laboratory.


METHODS
An Italian family with autosomal dominant lateral temporal epilepsy.


METHODS
Mutation analysis.


RESULTS
A novel LGI1 mutation, c.365T>A (Ile122Lys), segregating with the disease was identified. The mutant Lgi1 protein was not secreted by culture cells.


CONCLUSIONS
Our data provide further evidence that mutations in LGI1 hamper secretion of the Lgi1 protein, thereby precluding its normal function.
Striano
Pasquale
P
Muscular and Neurodegenerative Diseases Unit, Institute G. Gaslini, University of Genoa, Genoa, Italy.
de Falco
Arturo
A
Diani
Erica
E
Bovo
Giorgia
G
Furlan
Sandra
S
Vitiello
Libero
L
Pinardi
Federica
F
Striano
Salvatore
S
Michelucci
Roberto
R
de Falco
Fabrizio Antonio
FA
Nobile
Carlo
C
D000328:Adult; D002460:Cell Line; D004252:DNA Mutational Analysis / Q000379:methods; D004833:Epilepsy, Temporal Lobe / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics* / Q000378:metabolism
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins