A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.
Mutations in LGI1 have been reported in several families with autosomal dominant lateral temporal epilepsy. In a family in which three patients also experienced migraine-like episodes we found a novel three base-pair deletion (c.377_379delACA), resulting in the deletion of an asparagine residue in the second leucine-rich repeat. Functional studies showed that the mutated protein was not secreted when transfected in COS cells, consistent with a causative role in the disease.
de Bellescize
Julitta
J
Service Epilepsie, Sommeil, Explorations Fonctionnelles Neurolopédiatriques et CTRS-IDEE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.
Boutry
Nadia
N
Chabrol
Elodie
E
André-Obadia
Nathalie
N
Arzimanoglou
Alexis
A
Leguern
Eric
E
Baulac
Stéphanie
S
Calender
Alain
A
Ryvlin
Philippe
P
Lesca
Gaetan
G
D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D001216:Asparagine / Q000235:genetics; D019556:COS Cells; D002522:Chlorocebus aethiops; D004833:Epilepsy, Temporal Lobe / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000150:complications* / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D014162:Transfection / Q000379:methods
D047908:Intracellular Signaling Peptides and Proteins; C116499:LGI1 protein, human; D011506:Proteins; D001216:Asparagine