201 related articles for article (PubMed ID: 34216016)
21. Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.
Tumiene B; Čiuladaitė Ž; Preikšaitienė E; Mameniškienė R; Utkus A; Kučinskas V
J Appl Genet; 2017 Nov; 58(4):467-474. PubMed ID: 28933030
[TBL] [Abstract][Full Text] [Related]
22. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
De Maria B; Balestrini S; Mei D; Melani F; Pellacani S; Pisano T; Rosati A; Scaturro GM; Giordano L; Cantalupo G; Fontana E; Zammarchi C; Said E; Leuzzi V; Mastrangelo M; Galosi S; Parrini E; Guerrini R
Am J Med Genet A; 2022 Feb; 188(2):522-533. PubMed ID: 34713950
[TBL] [Abstract][Full Text] [Related]
23. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
[TBL] [Abstract][Full Text] [Related]
24. High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
Stosser MB; Lindy AS; Butler E; Retterer K; Piccirillo-Stosser CM; Richard G; McKnight DA
Genet Med; 2018 Apr; 20(4):403-410. PubMed ID: 28837158
[TBL] [Abstract][Full Text] [Related]
25. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
[TBL] [Abstract][Full Text] [Related]
26. 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]
27.
Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ;
J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
[TBL] [Abstract][Full Text] [Related]
28. Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.
Hartmann C; von Spiczak S; Suls A; Weckhuysen S; Buyse G; Vilain C; Van Bogaert P; De Jonghe P; Cook J; Muhle H; Stephani U; Helbig I; Mefford HC
Epilepsia; 2015 Mar; 56(3):e26-32. PubMed ID: 25690317
[TBL] [Abstract][Full Text] [Related]
29. DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
Gu C; Wei X; Yan D; Cai Y; Li D; Shu J; Cai C
Epileptic Disord; 2024 Jun; 26(3):341-349. PubMed ID: 38752894
[TBL] [Abstract][Full Text] [Related]
30. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT; Stong N; Mountier EI; Helbig KL; Freytag S; Sullivan JE; Ben Zeev B; Nissenkorn A; Tzadok M; Heimer G; Shinde DN; Rezazadeh A; Regan BM; Oliver KL; Ernst ME; Lippa NC; Mulhern MS; Ren Z; Poduri A; Andrade DM; Bird LM; Bahlo M; Berkovic SF; Lowenstein DH; Scheffer IE; Sadleir LG; Goldstein DB; Mefford HC; Heinzen EL
Am J Hum Genet; 2017 Oct; 101(4):516-524. PubMed ID: 28942967
[TBL] [Abstract][Full Text] [Related]
33. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J; Guerrot AM; Morrow MM; Schramm C; Zamora FM; Shanmugham A; Liu S; Zou F; Bilan F; Le Guyader G; Bruel AL; Denommé-Pichon AS; Faivre L; Tran Mau-Them F; Tessarech M; Colin E; El Chehadeh S; Gérard B; Schaefer E; Cogne B; Isidor B; Nizon M; Doummar D; Valence S; Héron D; Keren B; Mignot C; Coutton C; Devillard F; Alaix AS; Amiel J; Colleaux L; Munnich A; Poirier K; Rio M; Rondeau S; Barcia G; Callewaert B; Dheedene A; Kumps C; Vergult S; Menten B; Chung WK; Hernan R; Larson A; Nori K; Stewart S; Wheless J; Kresge C; Pletcher BA; Caumes R; Smol T; Sigaudy S; Coubes C; Helm M; Smith R; Morrison J; Wheeler PG; Kritzer A; Jouret G; Afenjar A; Deleuze JF; Olaso R; Boland A; Poitou C; Frebourg T; Houdayer C; Saugier-Veber P; Nicolas G; Lecoquierre F
Hum Genet; 2022 Jan; 141(1):65-80. PubMed ID: 34748075
[TBL] [Abstract][Full Text] [Related]
34. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
35. The clinical presentation caused by truncating CHD8 variants.
Douzgou S; Liang HW; Metcalfe K; Somarathi S; Tischkowitz M; Mohamed W; Kini U; McKee S; Yates L; Bertoli M; Lynch SA; Holder S; ; Banka S
Clin Genet; 2019 Jul; 96(1):72-84. PubMed ID: 31001818
[TBL] [Abstract][Full Text] [Related]
36. Idiopathic focal epilepsies: the "lost tribe".
Pal DK; Ferrie C; Addis L; Akiyama T; Capovilla G; Caraballo R; de Saint-Martin A; Fejerman N; Guerrini R; Hamandi K; Helbig I; Ioannides AA; Kobayashi K; Lal D; Lesca G; Muhle H; Neubauer BA; Pisano T; Rudolf G; Seegmuller C; Shibata T; Smith A; Striano P; Strug LJ; Szepetowski P; Valeta T; Yoshinaga H; Koutroumanidis M
Epileptic Disord; 2016 Sep; 18(3):252-88. PubMed ID: 27435520
[TBL] [Abstract][Full Text] [Related]
37. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM; Uva P; Veiga MF; Oppo M; Zschaber FCR; Porcu G; Porto HP; Persico I; Onano S; Cuccuru G; Atzeni R; Vieira LCN; Pires MVA; Cucca F; Toralles MBP; Angius A; Crisponi L
BMC Med Genet; 2019 Jan; 20(1):16. PubMed ID: 30642272
[TBL] [Abstract][Full Text] [Related]
38. Rare coding variants in genes encoding GABA
May P; Girard S; Harrer M; Bobbili DR; Schubert J; Wolking S; Becker F; Lachance-Touchette P; Meloche C; Gravel M; Niturad CE; Knaus J; De Kovel C; Toliat M; Polvi A; Iacomino M; Guerrero-López R; Baulac S; Marini C; Thiele H; Altmüller J; Jabbari K; Ruppert AK; Jurkowski W; Lal D; Rusconi R; Cestèle S; Terragni B; Coombs ID; Reid CA; Striano P; Caglayan H; Siren A; Everett K; Møller RS; Hjalgrim H; Muhle H; Helbig I; Kunz WS; Weber YG; Weckhuysen S; Jonghe P; Sisodiya SM; Nabbout R; Franceschetti S; Coppola A; Vari MS; Kasteleijn-Nolst Trenité D; Baykan B; Ozbek U; Bebek N; Klein KM; Rosenow F; Nguyen DK; Dubeau F; Carmant L; Lortie A; Desbiens R; Clément JF; Cieuta-Walti C; Sills GJ; Auce P; Francis B; Johnson MR; Marson AG; Berghuis B; Sander JW; Avbersek A; McCormack M; Cavalleri GL; Delanty N; Depondt C; Krenn M; Zimprich F; Peter S; Nikanorova M; Kraaij R; van Rooij J; Balling R; Ikram MA; Uitterlinden AG; Avanzini G; Schorge S; Petrou S; Mantegazza M; Sander T; LeGuern E; Serratosa JM; Koeleman BPC; Palotie A; Lehesjoki AE; Nothnagel M; Nürnberg P; Maljevic S; Zara F; Cossette P; Krause R; Lerche H; ; ;
Lancet Neurol; 2018 Aug; 17(8):699-708. PubMed ID: 30033060
[TBL] [Abstract][Full Text] [Related]
39. Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Inuzuka LM; Macedo-Souza LI; Della-Ripa B; Monteiro FP; Ramos L; Kitajima JP; Garzon E; Kok F
Brain Dev; 2020 Oct; 42(9):691-695. PubMed ID: 32773162
[TBL] [Abstract][Full Text] [Related]
40. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias C; Pfundt R; Kleefstra T; Shuurs-Hoeijmakers J; Boon EMJ; van Hagen JM; Zwijnenburg P; Weiss MM; Keren B; Mignot C; Isapof A; Weiss K; Hershkovitz T; Iascone M; Maitz S; Feichtinger RG; Kotzot D; Mayr JA; Ben-Omran T; Mahmoud L; Pais LS; Walsh CA; Shashi V; Sullivan JA; Stong N; Lecoquierre F; Guerrot AM; Charollais A; Rodan LH
Am J Med Genet A; 2021 Aug; 185(8):2384-2390. PubMed ID: 34003604
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]