246 related articles for article (PubMed ID: 33640666)
1. CASK related disorder: Epilepsy and developmental outcome.
Giacomini T; Nuovo S; Zanni G; Mancardi MM; Cusmai R; Pepi C; Bertini E; Valente EM; Battini R; Ferrari A; Romaniello R; Zucca C; Borgatti R; Uccella S; Severino M; Striano P; Pistorio A; Prato G; De Grandis E; Nobili L; Pisciotta L
Eur J Paediatr Neurol; 2021 Mar; 31():61-69. PubMed ID: 33640666
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. Phenotypic and molecular insights into CASK-related disorders in males.
Moog U; Bierhals T; Brand K; Bautsch J; Biskup S; Brune T; Denecke J; de Die-Smulders CE; Evers C; Hempel M; Henneke M; Yntema H; Menten B; Pietz J; Pfundt R; Schmidtke J; Steinemann D; Stumpel CT; Van Maldergem L; Kutsche K
Orphanet J Rare Dis; 2015 Apr; 10():44. PubMed ID: 25886057
[TBL] [Abstract][Full Text] [Related]
5. Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mukherjee K; Patel PA; Rajan DS; LaConte LEW; Srivastava S
Mol Genet Genomic Med; 2020 Oct; 8(10):e1426. PubMed ID: 32696595
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and genetic characteristics of children with STXBP1 encephalopathy].
Cao JJ; Ji XN; Mao YY; Zhang PP; Liu WT; Zhang HZ; Ding N; Chen Q
Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):493-498. PubMed ID: 32521962
[No Abstract] [Full Text] [Related]
7. Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Dubbs H; Ortiz-Gonzalez X; Marsh ED
Am J Med Genet A; 2022 Sep; 188(9):2617-2626. PubMed ID: 35670295
[TBL] [Abstract][Full Text] [Related]
8.
Vlaskamp DRM; Shaw BJ; Burgess R; Mei D; Montomoli M; Xie H; Myers CT; Bennett MF; XiangWei W; Williams D; Maas SM; Brooks AS; Mancini GMS; van de Laar IMBH; van Hagen JM; Ware TL; Webster RI; Malone S; Berkovic SF; Kalnins RM; Sicca F; Korenke GC; van Ravenswaaij-Arts CMA; Hildebrand MS; Mefford HC; Jiang Y; Guerrini R; Scheffer IE
Neurology; 2019 Jan; 92(2):e96-e107. PubMed ID: 30541864
[TBL] [Abstract][Full Text] [Related]
9. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
[No Abstract] [Full Text] [Related]
10. Late-onset epileptic spasms in a female patient with a CASK mutation.
Nakajiri T; Kobayashi K; Okamoto N; Oka M; Miya F; Kosaki K; Yoshinaga H
Brain Dev; 2015 Oct; 37(9):919-23. PubMed ID: 25765806
[TBL] [Abstract][Full Text] [Related]
11. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
Matricardi S; De Liso P; Freri E; Costa P; Castellotti B; Magri S; Gellera C; Granata T; Musante L; Lesca G; Oertel J; Craiu D; Hammer TB; Møller RS; Barisic N; Abou Jamra R; Polster T; Vigevano F; Marini C
Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia.
Wu S; Jiang C; Li J; Zhang G; Shen Y; Wang J
BMC Med Genomics; 2022 Jun; 15(1):127. PubMed ID: 35668446
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S; Uehara DT; Tanimoto K; Mizuno S; Chinen Y; Fukumura S; Takanashi JI; Osaka H; Okamoto N; Inazawa J
PLoS One; 2017; 12(8):e0181791. PubMed ID: 28783747
[TBL] [Abstract][Full Text] [Related]
17. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases.
Yoganathan S; Arunachal G; Gowda VK; Vinayan KP; Thomas M; Whitney R; Jain P
Seizure; 2021 Nov; 92():52-55. PubMed ID: 34425480
[TBL] [Abstract][Full Text] [Related]
18. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L; Chantot-Bastaraud S; Garel C; Milh M; Touraine R; Zanni G; Petit F; Afenjar A; Goizet C; Barresi S; Coussement A; Ioos C; Lazaro L; Joriot S; Desguerre I; Lacombe D; des Portes V; Bertini E; Siffroi JP; de Villemeur TB; Rodriguez D
Orphanet J Rare Dis; 2012 Mar; 7():18. PubMed ID: 22452838
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E; Møller RS
Epilepsia; 2019 Dec; 60 Suppl 3():S77-S85. PubMed ID: 31904124
[TBL] [Abstract][Full Text] [Related]
20. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M; Ferretti A; Bebin E; Huh L; Lesca G; Siekierska A; Takeguchi R; Carneiro M; De Palma L; Guella I; Haginoya K; Shi RM; Kikuchi A; Kobayashi T; Jung J; Lagae L; Milh M; Mathieu ML; Minassian BA; Novelli A; Pietrafusa N; Takeshita E; Tartaglia M; Terracciano A; Thompson ML; Cooper GM; Vigevano F; Villard L; Villeneuve N; Buyse GM; Demos M; Scheffer IE; Specchio N
Epilepsia; 2020 Jul; 61(7):e71-e78. PubMed ID: 32645220
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
