These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 38512072)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. [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]  

  • 28. 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]  

  • 29. [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]  

  • 30. 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]  

  • 31. [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]  

  • 32. [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]  

  • 33. 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]  

  • 34. 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]  

  • 35. [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]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. Treatment of epileptic encephalopathies.
    McTague A; Cross JH
    CNS Drugs; 2013 Mar; 27(3):175-84. PubMed ID: 23397290
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.