title: Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy.
abstract: NEDD4-2 alias NEDD4L (neural precursor cell expressed, developmentally downregulated) gene was reported as a candidate gene for epileptic photo-sensitivity. We aimed to investigate this possible association of NEDD4-2 variants with idiopathic photosensitive epilepsy. Consecutive patients who had been followed up at our epilepsy center and diagnosed with idiopathic epilepsy according to ILAE criteria and clear-cut photoparoxysmal responses in their electroencephalograms and 100 ethnically matched healthy subjects were included in the study. The regions around previously reported three variants, namely, S233L, E271A and H515P were tracked with DHPLC and the samples showing variations were sequenced. 81 patients (63 females) aged between 12-63 years (45 had juvenile myoclonic epilepsy, 11 childhood absence epilepsy, 14 juvenile absence epilepsy, 7 late onset idiopathic generalized epilepsy, 1 unclassified idiopathic generalized epilepsy, and 3 patients with idiopathic photosensitive occipital lobe epilepsy) were included in this study. We found only one heterozygous S233L variant in a 23-year-old man who has photosensitive form of juvenile absence epilepsy and pattern sensitivity to striped carpets. Other two variants were not found in any of the other patients and controls. Our results suggest that three screened NEDD4-2 variants do not play a leading role in the pathogenesis of photosensitive epilepsy in the Turkish population.
authors.affiliation: Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Millet Street, 34390, Capa-Istanbul, Turkey, ebruvanli@hotmail.com.
authors.forename: Ebru Nur
authors.initials: EN
authors.lastname: Vanli-Yavuz
authors.forename: Ozkan
authors.initials: O
authors.lastname: Ozdemir
authors.forename: Ayse
authors.initials: A
authors.lastname: Demirkan
authors.forename: Suzin
authors.initials: S
authors.lastname: Catal
authors.forename: Nerses
authors.initials: N
authors.lastname: Bebek
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozbek
authors.forename: Betul
authors.initials: B
authors.lastname: Baykan
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D004569:Electroencephalography; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D020195:Epilepsy, Reflex / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D000075702:Nedd4 Ubiquitin Protein Ligases; D010775:Photic Stimulation / Q000009:adverse effects; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D055815:Young Adult
chemical_list: D056827:Endosomal Sorting Complexes Required for Transport; D000075702:Nedd4 Ubiquitin Protein Ligases; C000618483:Nedd4 protein, human; C000618485:Nedd4L protein, human; D044767:Ubiquitin-Protein Ligases