172 related articles for article (PubMed ID: 35638367)
41. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Yang Y; Xiangwei W; Zhang X; Xiao J; Chen J; Yang X; Jia T; Yang Z; Jiang Y; Zhang Y
Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847
[TBL] [Abstract][Full Text] [Related]
42. Epileptic encephalopathies in infants and children.
Nordli DR
J Clin Neurophysiol; 2012 Oct; 29(5):420-4. PubMed ID: 23027099
[TBL] [Abstract][Full Text] [Related]
43. Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
Desprairies C; Valence S; Maurey H; Helal SI; Weckhuysen S; Soliman H; Mefford HC; Spentchian M; Héron D; Leguern E; Nava C; Bouilleret V; Moretti R; Mignot C
Clin Genet; 2020 Mar; 97(3):477-482. PubMed ID: 31883110
[TBL] [Abstract][Full Text] [Related]
44. CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.
Lilles S; Talvik I; Noormets K; Vaher U; Õunap K; Reimand T; Sander V; Ilves P; Talvik T
Neuropediatrics; 2016 Dec; 47(6):361-367. PubMed ID: 27599155
[TBL] [Abstract][Full Text] [Related]
45. De novo GABRA1 mutations in Ohtahara and West syndromes.
Kodera H; Ohba C; Kato M; Maeda T; Araki K; Tajima D; Matsuo M; Hino-Fukuyo N; Kohashi K; Ishiyama A; Takeshita S; Motoi H; Kitamura T; Kikuchi A; Tsurusaki Y; Nakashima M; Miyake N; Sasaki M; Kure S; Haginoya K; Saitsu H; Matsumoto N
Epilepsia; 2016 Apr; 57(4):566-73. PubMed ID: 26918889
[TBL] [Abstract][Full Text] [Related]
46. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z
BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057
[TBL] [Abstract][Full Text] [Related]
47. A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
Zehavi Y; von Renesse A; Daniel-Spiegel E; Sapir Y; Zalman L; Chervinsky I; Schuelke M; Straussberg R; Spiegel R
Metab Brain Dis; 2017 Dec; 32(6):2131-2137. PubMed ID: 28900819
[TBL] [Abstract][Full Text] [Related]
48. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).
Kato M; Saitoh S; Kamei A; Shiraishi H; Ueda Y; Akasaka M; Tohyama J; Akasaka N; Hayasaka K
Am J Hum Genet; 2007 Aug; 81(2):361-6. PubMed ID: 17668384
[TBL] [Abstract][Full Text] [Related]
49. Severe CNS involvement in WWOX mutations: Description of five new cases.
Tabarki B; AlHashem A; AlShahwan S; Alkuraya FS; Gedela S; Zuccoli G
Am J Med Genet A; 2015 Dec; 167A(12):3209-13. PubMed ID: 26345274
[TBL] [Abstract][Full Text] [Related]
50. Novel West syndrome candidate genes in a Chinese cohort.
Peng J; Wang Y; He F; Chen C; Wu LW; Yang LF; Ma YP; Zhang W; Shi ZQ; Chen C; Xia K; Guo H; Yin F; Pang N
CNS Neurosci Ther; 2018 Dec; 24(12):1196-1206. PubMed ID: 29667327
[TBL] [Abstract][Full Text] [Related]
51. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.
Cabasson S; Van-Gils J; Villéga F; Abi-Warde MT; Barcia G; Lazaro L; Cancés C; Chelly J; Karsenty C; Rivera S; de Saint-Martin A; Trimouille A; Villard L; Pédespan JM
Eur J Paediatr Neurol; 2020 Sep; 28():214-220. PubMed ID: 32694024
[TBL] [Abstract][Full Text] [Related]
52. Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
Zehavi Y; Mandel H; Eran A; Ravid S; Abu Rashid M; Jansen EEW; Wamelink MMC; Saada A; Shaag A; Elpeleg O; Spiegel R
Metab Brain Dis; 2019 Apr; 34(2):557-563. PubMed ID: 30637540
[TBL] [Abstract][Full Text] [Related]
53. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
[TBL] [Abstract][Full Text] [Related]
54. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Di Meglio C; Lesca G; Villeneuve N; Lacoste C; Abidi A; Cacciagli P; Altuzarra C; Roubertie A; Afenjar A; Renaldo-Robin F; Isidor B; Gautier A; Husson M; Cances C; Metreau J; Laroche C; Chouchane M; Ville D; Marignier S; Rougeot C; Lebrun M; de Saint Martin A; Perez A; Riquet A; Badens C; Missirian C; Philip N; Chabrol B; Villard L; Milh M
Epilepsia; 2015 Dec; 56(12):1931-40. PubMed ID: 26514728
[TBL] [Abstract][Full Text] [Related]
55. Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ; Scaglia F
Eur J Med Genet; 2012 May; 55(5):299-306. PubMed ID: 22548976
[TBL] [Abstract][Full Text] [Related]
56. [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]
57. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
[TBL] [Abstract][Full Text] [Related]
58. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M; Failla P; Saccuzzo L; Miceli M; Salvo E; Castiglia L; Galesi O; Grillo L; Calì F; Greco D; Amato C; Romano C; Elia M
Hum Genet; 2019 Feb; 138(2):187-198. PubMed ID: 30656450
[TBL] [Abstract][Full Text] [Related]
59. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Schneider AL; Myers CT; Muir AM; Calvert S; Basinger A; Perry MS; Rodan L; Helbig KL; Chambers C; Gorman KM; King MD; Donkervoort S; Soldatos A; Bönnemann CG; Spataro N; Gabau E; Arellano M; Cappuccio G; Brunetti-Pierri N; Rossignol E; Hamdan FF; Michaud JL; Balak C; Mefford HC; Scheffer IE
Epilepsia; 2021 Jan; 62(1):e13-e21. PubMed ID: 33280099
[TBL] [Abstract][Full Text] [Related]
60. [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]
[Previous] [Next] [New Search]
