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4. Novel compound heterozygous mutations in the WWOX gene cause early infantile epileptic encephalopathy. Yang C; Zhang Y; Song Z; Yi Z; Li F Int J Dev Neurosci; 2019 Dec; 79():45-48. PubMed ID: 31669195 [TBL] [Abstract][Full Text] [Related]
5. A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay. Johannsen J; Kortüm F; Rosenberger G; Bokelmann K; Schirmer MA; Denecke J; Santer R Neurogenetics; 2018 Aug; 19(3):151-156. PubMed ID: 29808465 [TBL] [Abstract][Full Text] [Related]
6. Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. Weisz-Hubshman M; Meirson H; Michaelson-Cohen R; Beeri R; Tzur S; Bormans C; Modai S; Shomron N; Shilon Y; Banne E; Orenstein N; Konen O; Marek-Yagel D; Veber A; Shalva N; Imagawa E; Matsumoto N; Lev D; Lerman Sagie T; Raas-Rothschild A; Ben-Zeev B; Basel-Salmon L; Behar DM; Heimer G Eur J Paediatr Neurol; 2019 May; 23(3):418-426. PubMed ID: 30853297 [TBL] [Abstract][Full Text] [Related]
7. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. Oliver KL; Trivisano M; Mandelstam SA; De Dominicis A; Francis DI; Green TE; Muir AM; Chowdhary A; Hertzberg C; Goldhahn K; Metreau J; Prager C; Pinner J; Cardamone M; Myers KA; Leventer RJ; Lesca G; Bahlo M; Hildebrand MS; Mefford HC; Kaindl AM; Specchio N; Scheffer IE Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245 [TBL] [Abstract][Full Text] [Related]
8. Early onset epileptic encephalopathy caused by novel compound heterozygous mutation of WWOX gene. Su T; Yan Y; Xu S; Zhang K; Xu S Int J Dev Neurosci; 2020 Apr; 80(2):157-161. PubMed ID: 32037574 [TBL] [Abstract][Full Text] [Related]
10. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]. Wang T; Cheng MM; Liu WW; Tan QZ; Liu CH; Yang Y; Yang XL; Zhang YH Zhonghua Er Ke Za Zhi; 2024 Aug; 62(8):752-757. PubMed ID: 39039877 [No Abstract] [Full Text] [Related]
11. Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations. Havali C; Ekici A; Dorum S; Görükmez Ö; Topak A Neurol Res; 2021 Sep; 43(9):744-750. PubMed ID: 34034642 [No Abstract] [Full Text] [Related]
12. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. Piard J; Hawkes L; Milh M; Villard L; Borgatti R; Romaniello R; Fradin M; Capri Y; Héron D; Nougues MC; Nava C; Arsene OT; Shears D; Taylor J; Pagnamenta A; Taylor JC; Sogawa Y; Johnson D; Firth H; Vasudevan P; Jones G; Nguyen-Morel MA; Busa T; Roubertie A; van den Born M; Brischoux-Boucher E; Koenig M; Mignot C; ; Kini U; Philippe C Genet Med; 2019 Jun; 21(6):1308-1318. PubMed ID: 30356099 [TBL] [Abstract][Full Text] [Related]
13. Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome. Al Baradie R; Mir A; Alsaif A; Ali M; Al Ghamdi F; Bashir S; Howsawi Y Epileptic Disord; 2022 Aug; 24(4):697-712. PubMed ID: 35792847 [TBL] [Abstract][Full Text] [Related]
14. WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. Valduga M; Philippe C; Lambert L; Bach-Segura P; Schmitt E; Masutti JP; François B; Pinaud P; Vibert M; Jonveaux P J Hum Genet; 2015 May; 60(5):267-71. PubMed ID: 25716914 [TBL] [Abstract][Full Text] [Related]
16. Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review. Ehaideb SN; Al-Bu Ali MJ; Al-Obaid JJ; Aljassim KM; Alfadhel M Transl Neurosci; 2018; 9():203-208. PubMed ID: 30746283 [TBL] [Abstract][Full Text] [Related]
17. Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy. Nishino M; Tanaka M; Imagawa K; Yaita K; Enokizono T; Ohto T; Suzuki H; Yamada M; Takenouchi T; Kosaki K; Takada H Am J Med Genet A; 2024 Jul; 194(7):e63575. PubMed ID: 38407561 [TBL] [Abstract][Full Text] [Related]
20. Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene. You Y; Wu W; Du Y; Hu J; Li B Mol Genet Genomic Med; 2024 Aug; 12(8):e2500. PubMed ID: 39101447 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]