139 related articles for article (PubMed ID: 36476360)
21. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
22. Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
Kuersten M; Tacke M; Gerstl L; Hoelz H; Stülpnagel CV; Borggraefe I
Eur J Med Genet; 2020 Jan; 63(1):103628. PubMed ID: 30771507
[TBL] [Abstract][Full Text] [Related]
23. Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.
Chen CY; Tsai MS; Lin CY; Yu IS; Chen YT; Lin SR; Juan LW; Chen YT; Hsu HM; Lee LJ; Lin SW
Hum Mol Genet; 2012 Oct; 21(19):4270-85. PubMed ID: 22763239
[TBL] [Abstract][Full Text] [Related]
24. Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair.
Salvati A; Biagioni T; Ferrari AR; Lopergolo D; Brovedani P; Bartolini E
Seizure; 2022 Jul; 99():127-130. PubMed ID: 35636160
[TBL] [Abstract][Full Text] [Related]
25. Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.
Zou Y; Liu Q; Chen B; Zhang X; Guo C; Zhou H; Li J; Gao G; Guo Y; Yan C; Wei J; Shao C; Gong Y
Am J Hum Genet; 2007 Mar; 80(3):561-6. PubMed ID: 17273978
[TBL] [Abstract][Full Text] [Related]
26. [Clinical phenotypes and genetic features of epilepsy children with MBD5 gene variants].
Jing XW; Cheng MM; Niu XY; Yang Y; Yang XL; Yang ZX; Zhang YH
Zhonghua Er Ke Za Zhi; 2022 Apr; 60(4):345-349. PubMed ID: 35385942
[No Abstract] [Full Text] [Related]
27. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F; Douzgou S; Scala M; Mingarelli A; D'Arrigo S; Freri E; Darra F; Giglio S; Bonaglia MC; Pantaleoni C; Mastrangelo M; Epifanio R; Elia M; Saletti V; Morlino S; Vari MS; De Liso P; Pavaine J; Spaccini L; Cattaneo E; Gardella E; Møller RS; Marchese F; Colonna C; Gandioli C; Gobbi G; Ram D; Palumbo O; Carella M; Germano M; Tonduti D; De Angelis D; Caputo D; Bergonzini P; Novara F; Zuffardi O; Verrotti A; Orsini A; Bonuccelli A; De Muto MC; Trivisano M; Vigevano F; Granata T; Bernardina BD; Tranchina A; Striano P
Seizure; 2021 May; 88():60-72. PubMed ID: 33831796
[TBL] [Abstract][Full Text] [Related]
28. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
Kim HJ; Yang D; Kim SH; Kim B; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC
Epilepsy Res; 2019 Dec; 158():106222. PubMed ID: 31675620
[TBL] [Abstract][Full Text] [Related]
29. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
[TBL] [Abstract][Full Text] [Related]
30. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M; Ferretti A; Bebin E; Huh L; Lesca G; Siekierska A; Takeguchi R; Carneiro M; De Palma L; Guella I; Haginoya K; Shi RM; Kikuchi A; Kobayashi T; Jung J; Lagae L; Milh M; Mathieu ML; Minassian BA; Novelli A; Pietrafusa N; Takeshita E; Tartaglia M; Terracciano A; Thompson ML; Cooper GM; Vigevano F; Villard L; Villeneuve N; Buyse GM; Demos M; Scheffer IE; Specchio N
Epilepsia; 2020 Jul; 61(7):e71-e78. PubMed ID: 32645220
[TBL] [Abstract][Full Text] [Related]
31. [Phenotype study of SCN2A gene related epilepsy].
Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
[No Abstract] [Full Text] [Related]
32. Genome-first approach diagnosed Cabezas syndrome via novel
Okamoto N; Watanabe M; Naruto T; Matsuda K; Kohmoto T; Saito M; Masuda K; Imoto I
Hum Genome Var; 2017; 4():16045. PubMed ID: 28144446
[TBL] [Abstract][Full Text] [Related]
33. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
[No Abstract] [Full Text] [Related]
34. [Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene].
Gamirova RG; Barkov AI; Shaimuchametova VA; Liukshina NG; Volkov IV; Tomenko TR; Rachmanina OA; Shestakova OI; Gorobets EA
Zh Nevrol Psikhiatr Im S S Korsakova; 2022; 122(9. Vyp. 2):14-20. PubMed ID: 36170093
[TBL] [Abstract][Full Text] [Related]
35. A multi-disciplinary clinic for SCN8A-related epilepsy.
Schreiber JM; Tochen L; Brown M; Evans S; Ball LJ; Bumbut A; Thewamit R; Whitehead MT; Black C; Boutzoukas E; Fanto E; Suslovic W; Berl M; Hammer M; Gaillard WD
Epilepsy Res; 2020 Jan; 159():106261. PubMed ID: 31887642
[TBL] [Abstract][Full Text] [Related]
36. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M; Brunklaus A; Zuberi SM
Epilepsia; 2019 Dec; 60 Suppl 3():S59-S67. PubMed ID: 31904126
[TBL] [Abstract][Full Text] [Related]
37. GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
Yang Y; Zeng Q; Cheng M; Niu X; Xiangwei W; Gong P; Li W; Ma J; Zhang X; Yang X; Yang Z; Sun D; Zhou S; Liao J; Jiang Y; Zhang Y
J Neurol; 2022 May; 269(5):2649-2665. PubMed ID: 34698933
[TBL] [Abstract][Full Text] [Related]
38. Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.
Jiang B; Zhao W; Yuan J; Qian Y; Sun W; Zou Y; Guo C; Chen B; Shao C; Gong Y
PLoS One; 2012; 7(5):e37070. PubMed ID: 22606329
[TBL] [Abstract][Full Text] [Related]
39. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
Aiello S; Mancardi MM; Romano A; Santucci M; Scaduto MC; Vari MS; Striano P; Operto FF; Elia M; Vitiello G; Del Giudice E; Terrone G
Eur J Paediatr Neurol; 2022 Sep; 40():69-72. PubMed ID: 36031702
[TBL] [Abstract][Full Text] [Related]
40. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.
Chemaly N; Losito E; Pinard JM; Gautier A; Villeneuve N; Arbues AS; An I; Desguerre I; Dulac O; Chiron C; Kaminska A; Nabbout R
Epileptic Disord; 2018 Dec; 20(6):457-467. PubMed ID: 30530412
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
