169 related articles for article (PubMed ID: 31354784)
21. WDR45 mutations in three male patients with West syndrome.
Nakashima M; Takano K; Tsuyusaki Y; Yoshitomi S; Shimono M; Aoki Y; Kato M; Aida N; Mizuguchi T; Miyatake S; Miyake N; Osaka H; Saitsu H; Matsumoto N
J Hum Genet; 2016 Jul; 61(7):653-61. PubMed ID: 27030146
[TBL] [Abstract][Full Text] [Related]
22. Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A; Calaza M; Amigo J; González-Peñas J; Martínez-Regueiro R; Fernández-Prieto M; Parellada M; Arango C; Rodriguez-Fontenla C; Carracedo A
Sci Rep; 2021 Jan; 11(1):319. PubMed ID: 33431980
[TBL] [Abstract][Full Text] [Related]
23. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
[TBL] [Abstract][Full Text] [Related]
24. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J; Siquier-Pernet K; Nicouleau M; Barcia G; Ahmad A; Medina-Cano D; Hanein S; Altin N; Hubert L; Bole-Feysot C; Fourage C; Nitschké P; Thevenon J; Rio M; Blanc P; Vidal C; Bahi-Buisson N; Desguerre I; Munnich A; Lyonnet S; Boddaert N; Fassi E; Shinawi M; Zimmerman H; Amiel J; Faivre L; Colleaux L; Lory P; Cantagrel V
Brain; 2018 Jul; 141(7):1998-2013. PubMed ID: 29878067
[TBL] [Abstract][Full Text] [Related]
25. Infantile spasms syndrome, West syndrome and related phenotypes: what we know in 2013.
Pavone P; Striano P; Falsaperla R; Pavone L; Ruggieri M
Brain Dev; 2014 Oct; 36(9):739-51. PubMed ID: 24268986
[TBL] [Abstract][Full Text] [Related]
26. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I; McKenzie MB; Evans DM; Buerki SE; Toyota EB; Van Allen MI; ; Suri M; Elmslie F; ; Simon MEH; van Gassen KLI; Héron D; Keren B; Nava C; Connolly MB; Demos M; Farrer MJ
Am J Hum Genet; 2017 Aug; 101(2):300-310. PubMed ID: 28777935
[TBL] [Abstract][Full Text] [Related]
27. De novo DNM1 mutations in two cases of epileptic encephalopathy.
Nakashima M; Kouga T; Lourenço CM; Shiina M; Goto T; Tsurusaki Y; Miyatake S; Miyake N; Saitsu H; Ogata K; Osaka H; Matsumoto N
Epilepsia; 2016 Jan; 57(1):e18-23. PubMed ID: 26611353
[TBL] [Abstract][Full Text] [Related]
28. A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.
Kimizu T; Takahashi Y; Oboshi T; Horino A; Koike T; Yoshitomi S; Mori T; Yamaguchi T; Ikeda H; Okamoto N; Nakashima M; Saitsu H; Kato M; Matsumoto N; Imai K
Brain Dev; 2017 Mar; 39(3):256-260. PubMed ID: 27743886
[TBL] [Abstract][Full Text] [Related]
29. High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
Kobayashi Y; Tohyama J; Kato M; Akasaka N; Magara S; Kawashima H; Ohashi T; Shiraishi H; Nakashima M; Saitsu H; Matsumoto N
Brain Dev; 2016 Mar; 38(3):285-92. PubMed ID: 26482601
[TBL] [Abstract][Full Text] [Related]
30. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
[TBL] [Abstract][Full Text] [Related]
31. Rapid whole-genome sequencing identifies a novel
Farnaes L; Nahas SA; Chowdhury S; Nelson J; Batalov S; Dimmock DM; Kingsmore SF;
Cold Spring Harb Mol Case Stud; 2017 Sep; 3(5):. PubMed ID: 28864462
[TBL] [Abstract][Full Text] [Related]
32. Early-onset infant epileptic encephalopathy associated with a de novo
Qian Y; Wu B; Lu Y; Dong X; Qin Q; Zhou W; Wang H
Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30455226
[TBL] [Abstract][Full Text] [Related]
33. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM
Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324
[TBL] [Abstract][Full Text] [Related]
34. [Dynamin-1-related infantile spasms: a case report and review of literature].
Deng XL; Yin F; Zhang CL; Ma YP; He F; Wu LW; Peng J
Zhonghua Er Ke Za Zhi; 2016 Nov; 54(11):856-859. PubMed ID: 27806796
[No Abstract] [Full Text] [Related]
35. De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
Saitsu H; Akita T; Tohyama J; Goldberg-Stern H; Kobayashi Y; Cohen R; Kato M; Ohba C; Miyatake S; Tsurusaki Y; Nakashima M; Miyake N; Fukuda A; Matsumoto N
Sci Rep; 2015 Oct; 5():15199. PubMed ID: 26477325
[TBL] [Abstract][Full Text] [Related]
36. RhoG-Binding Domain of Elmo1 Ameliorates Excessive Process Elongation Induced by Autism Spectrum Disorder-Associated Sema5A.
Okabe M; Miyamoto Y; Ikoma Y; Takahashi M; Shirai R; Kukimoto-Niino M; Shirouzu M; Yamauchi J
Pathophysiology; 2023 Nov; 30(4):548-566. PubMed ID: 38133141
[TBL] [Abstract][Full Text] [Related]
37. [Analysis of gene mutation of early onset epileptic spasm with unknown reason].
Yang X; Pan G; Li WH; Zhang LM; Wu BB; Wang HJ; Zhang P; Zhou SZ
Zhonghua Er Ke Za Zhi; 2017 Nov; 55(11):813-817. PubMed ID: 29141310
[No Abstract] [Full Text] [Related]
38. Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.
Mei D; Parrini E; Bianchini C; Ricci ML; Guerrini R
Am J Med Genet C Semin Med Genet; 2023 May; ():. PubMed ID: 37132416
[TBL] [Abstract][Full Text] [Related]
39. The regulation of enteric neuron connectivity by semaphorin 5A is affected by the autism-associated S956G missense mutation.
Le Dréan ME; Le Berre-Scoul C; Paillé V; Caillaud M; Oullier T; Gonzales J; Hulin P; Neunlist M; Talon S; Boudin H
iScience; 2024 May; 27(5):109638. PubMed ID: 38650986
[TBL] [Abstract][Full Text] [Related]
40. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]