BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 37062836)

  • 21. A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A
    Cell Rep; 2017 Oct; 21(4):926-933. PubMed ID: 29069600
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Allelic strengths of encephalopathy-associated
    Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ
    Elife; 2023 Dec; 12():. PubMed ID: 38079206
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
    Miceli F; Guerrini R; Nappi M; Soldovieri MV; Cellini E; Gurnett CA; Parmeggiani L; Mei D; Taglialatela M
    Epilepsia; 2022 Jan; 63(1):e7-e14. PubMed ID: 34778950
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S
    Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452
    [TBL] [Abstract][Full Text] [Related]  

  • 27. New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature review.
    Alagoz M; Kherad N; Bozkurt S; Yuksel A
    Acta Biochim Pol; 2020 Sep; 67(3):431-434. PubMed ID: 32931186
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The Epilepsy of Infancy With Migrating Focal Seizures: Identification of
    Mao X; Bruneau N; Gao Q; Becq H; Jia Z; Xi H; Shu L; Wang H; Szepetowski P; Aniksztejn L
    Front Cell Neurosci; 2020; 14():1. PubMed ID: 32038177
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
    Bar C; Kuchenbuch M; Barcia G; Schneider A; Jennesson M; Le Guyader G; Lesca G; Mignot C; Montomoli M; Parrini E; Isnard H; Rolland A; Keren B; Afenjar A; Dorison N; Sadleir LG; Breuillard D; Levy R; Rio M; Dupont S; Negrin S; Danieli A; Scalais E; De Saint Martin A; El Chehadeh S; Chelly J; Poisson A; Lebre AS; Nica A; Odent S; Sekhara T; Brankovic V; Goldenberg A; Vrielynck P; Lederer D; Maurey H; Terrone G; Besmond C; Hubert L; Berquin P; Billette de Villemeur T; Isidor B; Freeman JL; Mefford HC; Myers CT; Howell KB; Rodríguez-Sacristán Cascajo A; Meyer P; Genevieve D; Guët A; Doummar D; Durigneux J; van Dooren MF; de Wit MCY; Gerard M; Marey I; Munnich A; Guerrini R; Scheffer IE; Kabashi E; Nabbout R
    Epilepsia; 2020 Nov; 61(11):2461-2473. PubMed ID: 32954514
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.
    Hinckley CA; Zhu Z; Chu JH; Gubbels C; Danker T; Cherry JJ; Whelan CD; Engle SJ; Nguyen V
    Epilepsia; 2023 Aug; 64(8):2126-2136. PubMed ID: 37177976
    [TBL] [Abstract][Full Text] [Related]  

  • 31. The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
    von Brauchitsch S; Haslinger D; Lindlar S; Thiele H; Bernsen N; Zahnert F; Reif PS; Balcik Y; Au PYB; Josephson CB; Altmüller J; Strzelczyk A; Knake S; Rosenow F; Chiocchetti A; Klein KM
    Epilepsia Open; 2023 Jun; 8(2):497-508. PubMed ID: 36896643
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
    Mary L; Nourisson E; Feger C; Laugel V; Chaigne D; Keren B; Afenjar A; Billette T; Trost D; Cieuta-Walti C; Gerard B; Piton A; Schaefer E
    Am J Med Genet A; 2021 Jun; 185(6):1803-1815. PubMed ID: 33754465
    [TBL] [Abstract][Full Text] [Related]  

  • 34. POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
    Rossi A; Blok LS; Neuser S; Klöckner C; Platzer K; Faivre LO; Weigand H; Dentici ML; Tartaglia M; Niceta M; Alfieri P; Srivastava S; Coulter D; Smith L; Vinorum K; Cappuccio G; Brunetti-Pierri N; Torun D; Arslan M; Lauridsen MF; Murch O; Irving R; Lynch SA; Mehta SG; Carmichael J; Zonneveld-Huijssoon E; de Vries B; Kleefstra T; Johannesen KM; Westphall IT; Hughes SS; Smithson S; Evans J; Dudding-Byth T; Simon M; van Binsbergen E; Herkert JC; Beunders G; Oppermann H; Bakal M; Møller RS; Rubboli G; Bayat A
    Clin Genet; 2023 Aug; 104(2):186-197. PubMed ID: 37165752
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of
    Happ HC; Sadleir LG; Zemel M; de Valles-Ibáñez G; Hildebrand MS; McConkie-Rosell A; McDonald M; May H; Sands T; Aggarwal V; Elder C; Feyma T; Bayat A; Møller RS; Fenger CD; Klint Nielsen JE; Datta AN; Gorman KM; King MD; Linhares ND; Burton BK; Paras A; Ellard S; Rankin J; Shukla A; Majethia P; Olson RJ; Muthusamy K; Schimmenti LA; Starnes K; Sedláčková L; Štěrbová K; Vlčková M; Laššuthová P; Jahodová A; Porter BE; Couque N; Colin E; Prouteau C; Collet C; Smol T; Caumes R; Vansenne F; Bisulli F; Licchetta L; Person R; Torti E; McWalter K; Webster R; Gerard EE; Lesca G; Szepetowski P; Scheffer IE; Mefford HC; Carvill GL
    Neurology; 2023 Feb; 100(6):e603-e615. PubMed ID: 36307226
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
    Liang L; Liu H; Bartholdi D; van Haeringen A; Fernandez-Jaén A; Peeters EEA; Xiong H; Bai X; Xu C; Ke T; Wang QK
    Acta Physiol (Oxf); 2022 May; 235(1):e13800. PubMed ID: 35156297
    [TBL] [Abstract][Full Text] [Related]  

  • 38. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
    Miceli F; Millevert C; Soldovieri MV; Mosca I; Ambrosino P; Carotenuto L; Schrader D; Lee HK; Riviello J; Hong W; Risen S; Emrick L; Amin H; Ville D; Edery P; de Bellescize J; Michaud V; Van-Gils J; Goizet C; Willemsen MH; Kleefstra T; Møller RS; Bayat A; Devinsky O; Sands T; Korenke GC; Kluger G; Mefford HC; Brilstra E; Lesca G; Milh M; Cooper EC; Taglialatela M; Weckhuysen S
    EBioMedicine; 2022 Jul; 81():104130. PubMed ID: 35780567
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A novel KCNQ2 missense variant in non-syndromic intellectual disability causes mild gain-of-function of Kv7.2 channel.
    Xiong J; Chen S; Chen B; Zhang W; Chen C; Deng X; He F; Zhang C; Yang L; Wang Y; Peng J; Yin F
    Clin Chim Acta; 2022 May; 530():74-80. PubMed ID: 35247435
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.