179 related articles for article (PubMed ID: 38512072)
21. Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study.
Mastrangelo M; Greco C; Tolve M; Bartolini E; Russo A; Nicita F; Pruna D; Galli J; Favaro J; Terrone G; De Felice C; Pisani F
Seizure; 2024 Jul; 119():119-127. PubMed ID: 38851096
[TBL] [Abstract][Full Text] [Related]
22. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
[TBL] [Abstract][Full Text] [Related]
23. A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.
Zhang X; Qiu S; Yang L; Li Y; Xu L; Xu N; Mi C; Li M
Mol Genet Genomic Med; 2023 May; 11(5):e2146. PubMed ID: 36749827
[TBL] [Abstract][Full Text] [Related]
24. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM; Heyne HO; Fiannacca M; Fitzgerald MP; Gardella E; Gunning B; Olofsson K; Lesca G; Verbeek N; Stamberger H; Striano P; Zara F; Mancardi MM; Nava C; Syrbe S; Buono S; Baulac S; Coppola A; Weckhuysen S; Schoonjans AS; Ceulemans B; Sarret C; Baumgartner T; Muhle H; Portes VD; Toulouse J; Nougues MC; Rossi M; Demarquay G; Ville D; Hirsch E; Maurey H; Willems M; de Bellescize J; Altuzarra CD; Villeneuve N; Bartolomei F; Picard F; Hornemann F; Koolen DA; Kroes HY; Reale C; Fenger CD; Tan WH; Dibbens L; Bearden DR; Møller RS; Rubboli G
Brain; 2021 Dec; 144(12):3635-3650. PubMed ID: 34114611
[TBL] [Abstract][Full Text] [Related]
25. PIGN encephalopathy: Characterizing the epileptology.
Bayat A; de Valles-Ibáñez G; Pendziwiat M; Knaus A; Alt K; Biamino E; Bley A; Calvert S; Carney P; Caro-Llopis A; Ceulemans B; Cousin J; Davis S; des Portes V; Edery P; England E; Ferreira C; Freeman J; Gener B; Gorce M; Heron D; Hildebrand MS; Jezela-Stanek A; Jouk PS; Keren B; Kloth K; Kluger G; Kuhn M; Lemke JR; Li H; Martinez F; Maxton C; Mefford HC; Merla G; Mierzewska H; Muir A; Monfort S; Nicolai J; Norman J; O'Grady G; Oleksy B; Orellana C; Orec LE; Peinhardt C; Pronicka E; Rosello M; Santos-Simarro F; Schwaibold EMC; Stegmann APA; Stumpel CT; Szczepanik E; Terczyńska I; Thevenon J; Tzschach A; Van Bogaert P; Vittorini R; Walsh S; Weckhuysen S; Weissman B; Wolfe L; Reymond A; De Nittis P; Poduri A; Olson H; Striano P; Lesca G; Scheffer IE; Møller RS; Sadleir LG
Epilepsia; 2022 Apr; 63(4):974-991. PubMed ID: 35179230
[TBL] [Abstract][Full Text] [Related]
26. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C; Porro A; Rastetter A; Dalle C; Rivolta I; Bauer D; Oegema R; Nava C; Parrini E; Mei D; Mercer C; Dhamija R; Chambers C; Coubes C; Thévenon J; Kuentz P; Julia S; Pasquier L; Dubourg C; Carré W; Rosati A; Melani F; Pisano T; Giardino M; Innes AM; Alembik Y; Scheidecker S; Santos M; Figueiroa S; Garrido C; Fusco C; Frattini D; Spagnoli C; Binda A; Granata T; Ragona F; Freri E; Franceschetti S; Canafoglia L; Castellotti B; Gellera C; Milanesi R; Mancardi MM; Clark DR; Kok F; Helbig KL; Ichikawa S; Sadler L; Neupauerová J; Laššuthova P; Šterbová K; Laridon A; Brilstra E; Koeleman B; Lemke JR; Zara F; Striano P; Soblet J; Smits G; Deconinck N; Barbuti A; DiFrancesco D; LeGuern E; Guerrini R; Santoro B; Hamacher K; Thiel G; Moroni A; DiFrancesco JC; Depienne C
Brain; 2018 Nov; 141(11):3160-3178. PubMed ID: 30351409
[TBL] [Abstract][Full Text] [Related]
27. Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J; Thalwitzer KM; McKee J; Sullivan KR; Brimble E; Fitch E; Toib J; Kaufman MC; deCampo D; Cunningham K; Pierce SR; Goss J; Rigby CS; Syrbe S; Boland M; Prosser B; Fitter N; Ruggiero SM; Helbig I
Brain; 2023 Dec; 146(12):5182-5197. PubMed ID: 38015929
[TBL] [Abstract][Full Text] [Related]
28. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
Yang Y; Zhang YH; Chen JY; Ma JH; Sun D; Yang XL; Zhang J; Chen Y; Wu XR
Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):118-122. PubMed ID: 32102148
[No Abstract] [Full Text] [Related]
29. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Marzin P; Mignot C; Dorison N; Dufour L; Ville D; Kaminska A; Panagiotakaki E; Dienpendaele AS; Penniello MJ; Nougues MC; Keren B; Depienne C; Nava C; Milh M; Villard L; Richelme C; Rivier C; Whalen S; Heron D; Lesca G; Doummar D
Brain Dev; 2018 Oct; 40(9):768-774. PubMed ID: 29861155
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Archer HL; Evans J; Edwards S; Colley J; Newbury-Ecob R; O'Callaghan F; Huyton M; O'Regan M; Tolmie J; Sampson J; Clarke A; Osborne J
J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
[TBL] [Abstract][Full Text] [Related]
32. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
[No Abstract] [Full Text] [Related]
33. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
[No Abstract] [Full Text] [Related]
34. Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
Li Y; Tang W; Kang L; Kong S; Dong Z; Zhao D; Liu R; Yu S
J Headache Pain; 2021 Aug; 22(1):92. PubMed ID: 34384358
[TBL] [Abstract][Full Text] [Related]
35. A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
Al-Bulushi B; Al-Hashem A; Tabarki B
J Child Neurol; 2014 Feb; 29(2):265-8. PubMed ID: 24097848
[TBL] [Abstract][Full Text] [Related]
36. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
Liu WW; Yang Y; Niu XY; Cheng MM; Wang S; Wu Y; Yang ZX; Liu XY; Cai LX; Jiang YW; Zhang YH
Zhonghua Er Ke Za Zhi; 2021 Oct; 59(10):859-864. PubMed ID: 34587683
[No Abstract] [Full Text] [Related]
37. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Guerrini R; Mei D; Kerti-Szigeti K; Pepe S; Koenig MK; Von Allmen G; Cho MT; McDonald K; Baker J; Bhambhani V; Powis Z; Rodan L; Nabbout R; Barcia G; Rosenfeld JA; Bacino CA; Mignot C; Power LH; Harris CJ; Marjanovic D; Møller RS; Hammer TB; ; Keski Filppula R; Vieira P; Hildebrandt C; Sacharow S; ; Maragliano L; Benfenati F; Lachlan K; Benneche A; Petit F; de Sainte Agathe JM; Hallinan B; Si Y; Wentzensen IM; Zou F; Narayanan V; Matsumoto N; Boncristiano A; la Marca G; Kato M; Anderson K; Barba C; Sturiale L; Garozzo D; Bei R; ; Masuelli L; Conti V; Novarino G; Fassio A
Brain; 2022 Aug; 145(8):2687-2703. PubMed ID: 35675510
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies.
Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP
Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583
[TBL] [Abstract][Full Text] [Related]
40. Treatment of epileptic encephalopathies.
McTague A; Cross JH
CNS Drugs; 2013 Mar; 27(3):175-84. PubMed ID: 23397290
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]