433 related articles for article (PubMed ID: 28460589)
1. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F; McWalter K; Schmidt L; Decker A; Picker JD; Lincoln S; Sweetser DA; Briere LC; Harini C; ; Marsh E; Medne L; Wang RY; Leydiker K; Mower A; Visser G; Cuppen I; van Gassen KL; van der Smagt J; Yousaf A; Tennison M; Shanmugham A; Butler E; Richard G; McKnight D
J Neurogenet; 2017; 31(1-2):30-36. PubMed ID: 28460589
[TBL] [Abstract][Full Text] [Related]
2. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J; Schreiber JM; Kangas SM; Pylkäs K; Suo-Palosaari M; Rahikkala E; Liinamaa J; Immonen EV; Hassinen I; Myllynen P; Rantala H; Hinttala R; Uusimaa J
Seizure; 2019 Jul; 69():99-104. PubMed ID: 31004928
[TBL] [Abstract][Full Text] [Related]
3.
Hernandez CC; Shen Y; Hu N; Shen W; Narayanan V; Ramsey K; He W; Zou L; Macdonald RL
Biomolecules; 2023 Feb; 13(3):. PubMed ID: 36979350
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
[TBL] [Abstract][Full Text] [Related]
5. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
[TBL] [Abstract][Full Text] [Related]
6. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
[TBL] [Abstract][Full Text] [Related]
7. The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM; Gardella E; Encinas AC; Lehesjoki AE; Linnankivi T; Petersen MB; Lund ICB; Blichfeldt S; Miranda MJ; Pal DK; Lascelles K; Procopis P; Orsini A; Bonuccelli A; Giacomini T; Helbig I; Fenger CD; Sisodiya SM; Hernandez-Hernandez L; Krithika S; Rumple M; Masnada S; Valente M; Cereda C; Giordano L; Accorsi P; Bürki SE; Mancardi M; Korff C; Guerrini R; von Spiczak S; Hoffman-Zacharska D; Mazurczak T; Coppola A; Buono S; Vecchi M; Hammer MF; Varesio C; Veggiotti P; Lal D; Brünger T; Zara F; Striano P; Rubboli G; Møller RS
Epilepsia; 2019 May; 60(5):830-844. PubMed ID: 30968951
[TBL] [Abstract][Full Text] [Related]
8. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; ; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E
Brain; 2017 Nov; 140(11):2879-2894. PubMed ID: 29053855
[TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
[TBL] [Abstract][Full Text] [Related]
10. The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H; Guzman RE; Cao D; Sierra-Marquez J; Yin F; Fahlke C; Peng J; Stauber T
Epilepsia; 2021 Jun; 62(6):1401-1415. PubMed ID: 33951195
[TBL] [Abstract][Full Text] [Related]
11. Phenotypes and genotypes in epilepsy with febrile seizures plus.
Ito M; Yamakawa K; Sugawara T; Hirose S; Fukuma G; Kaneko S
Epilepsy Res; 2006 Aug; 70 Suppl 1():S199-205. PubMed ID: 16884893
[TBL] [Abstract][Full Text] [Related]
12. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer IE; Zhang YH; Jansen FE; Dibbens L
Brain Dev; 2009 May; 31(5):394-400. PubMed ID: 19203856
[TBL] [Abstract][Full Text] [Related]
13. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
14. A familial dysmorphic condition with hypotonia, seizures and precocious puberty.
Smith A; Leask K; Tomlin P; Donnai D
Clin Dysmorphol; 2008 Jul; 17(3):161-164. PubMed ID: 18541960
[TBL] [Abstract][Full Text] [Related]
15. De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D; Hernandez CC; Shen W; Hu N; Poduri A; Shiedley B; Rotenberg A; Datta AN; Leiz S; Patzer S; Boor R; Ramsey K; Goldberg E; Helbig I; Ortiz-Gonzalez XR; Lemke JR; Marsh ED; Macdonald RL
Brain; 2017 Jan; 140(1):49-67. PubMed ID: 27864268
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic Spectrum and Prognosis of Epilepsy Patients With
Yang Y; Niu X; Cheng M; Zeng Q; Deng J; Tian X; Wang Y; Yu J; Shi W; Wu W; Ma J; Li Y; Yang X; Zhang X; Jia T; Yang Z; Liao J; Sun Y; Zheng H; Sun S; Sun D; Jiang Y; Zhang Y
Front Mol Neurosci; 2022; 15():809163. PubMed ID: 35359574
[TBL] [Abstract][Full Text] [Related]
17. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers IJC; Reijnders MRF; Venselaar H; Kraus A; ; Jansen S; de Vries BBA; Houge G; Gradek GA; Seo J; Choi M; Chae JH; van der Burgt I; Pfundt R; Letteboer SJF; van Beersum SEC; Dusseljee S; Brunner HG; Doherty D; Kleefstra T; Roepman R
Am J Hum Genet; 2017 Nov; 101(5):824-832. PubMed ID: 29106825
[TBL] [Abstract][Full Text] [Related]
18.
Plassche SV; Brouwer AP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925166
[TBL] [Abstract][Full Text] [Related]
19. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
Kananura C; Haug K; Sander T; Runge U; Gu W; Hallmann K; Rebstock J; Heils A; Steinlein OK
Arch Neurol; 2002 Jul; 59(7):1137-41. PubMed ID: 12117362
[TBL] [Abstract][Full Text] [Related]
20. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
