So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.
We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images. As her son is mentally retarded and has a pachygyria, the doublecortin gene, usually involved in band heterotopia or lissencephaly, was screened for mutations. A missense mutation was identified, shared by both the son and his mother, and a subtle discontinuous subcortical heterotopia was subsequently detected on the mother's MRI. The pathophysiology of epilepsy in this woman is discussed in the light of the role of doublecortin, not only in neuronal migration, but also in axonal growth and dendritic connectivity.
des Portes
V
V
Service de neuropédiatrie, Hôpital Saint Vincent-de-Paul, Paris, France. desportes@cochin.inserm.fr
Abaoub
L
L
Joannard
A
A
Souville
I
I
Francis
F
F
Pinard
J M
JM
Chelly
J
J
Beldjord
C
C
Jouk
P S
PS
D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000503:physiopathology; D002675:Child, Preschool; D000089622:Doublecortin Domain Proteins; D017029:Epilepsy, Complex Partial / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*
D000089622:Doublecortin Domain Proteins; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human