150 related articles for article (PubMed ID: 31110234)
21. SCAF4 variants are associated with epilepsy with neurodevelopmental disorders.
Hu Y; Zhang B; Chen L; He J; Yang L; Chen X
Seizure; 2024 Mar; 116():113-118. PubMed ID: 37891035
[TBL] [Abstract][Full Text] [Related]
22. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
Scharer G; Brocker C; Vasiliou V; Creadon-Swindell G; Gallagher RC; Spector E; Van Hove JL
J Inherit Metab Dis; 2010 Oct; 33(5):571-81. PubMed ID: 20814824
[TBL] [Abstract][Full Text] [Related]
23. A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late-onset generalized epilepsy.
Fraser H; Goldman A; Wright R; ; Banka S
Am J Med Genet A; 2019 Mar; 179(3):507-511. PubMed ID: 30624022
[TBL] [Abstract][Full Text] [Related]
24. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S; Myers KA; Smith AC; Beaulieu CL; Schwartzentruber JA; ; Majewski J; Bulman D; Boycott KM; Dyment DA
Epilepsia; 2014 Jul; 55(7):e75-9. PubMed ID: 24903190
[TBL] [Abstract][Full Text] [Related]
25. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
26. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
Rudolf G; Lesca G; Mehrjouy MM; Labalme A; Salmi M; Bache I; Bruneau N; Pendziwiat M; Fluss J; de Bellescize J; Scholly J; Møller RS; Craiu D; Tommerup N; Valenti-Hirsch MP; Schluth-Bolard C; Sloan-Béna F; Helbig KL; Weckhuysen S; Edery P; Coulbaut S; Abbas M; Scheffer IE; Tang S; Myers CT; Stamberger H; Carvill GL; Shinde DN; Mefford HC; Neagu E; Huether R; Lu HM; Dica A; Cohen JS; Iliescu C; Pomeran C; Rubenstein J; Helbig I; Sanlaville D; Hirsch E; Szepetowski P
Eur J Hum Genet; 2016 Dec; 24(12):1761-1770. PubMed ID: 27352968
[TBL] [Abstract][Full Text] [Related]
27. A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
Smith JA; Holden KR; Friez MJ; Jones JR; Lyons MJ
Am J Med Genet A; 2016 Dec; 170(12):3313-3318. PubMed ID: 27570168
[TBL] [Abstract][Full Text] [Related]
28. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
29. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
Fukai R; Saitsu H; Tsurusaki Y; Sakai Y; Haginoya K; Takahashi K; Hubshman MW; Okamoto N; Nakashima M; Tanaka F; Miyake N; Matsumoto N
J Hum Genet; 2016 May; 61(5):381-7. PubMed ID: 26818738
[TBL] [Abstract][Full Text] [Related]
30. De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.
Yu X; Yang L; Li J; Li W; Li D; Wang R; Wu K; Chen W; Zhang Y; Qiu Z; Zhou W
Neurosci Bull; 2019 Dec; 35(6):1045-1057. PubMed ID: 31197650
[TBL] [Abstract][Full Text] [Related]
31. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.
Epilepsy Genetics Initiative
Genet Med; 2018 Feb; 20(2):275-281. PubMed ID: 29121005
[TBL] [Abstract][Full Text] [Related]
32. 7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Literature review.
Pavone P; Corsello G; Marino SD; Ruggieri M; Falsaperla R
Epilepsy Res; 2019 Dec; 158():106223. PubMed ID: 31707317
[TBL] [Abstract][Full Text] [Related]
33. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
Mir A; Song Y; Lee H; Nadeali Z; Tabatabaiefar MA
Mol Genet Genomic Med; 2024 Jan; 12(1):e2305. PubMed ID: 37877434
[TBL] [Abstract][Full Text] [Related]
34. Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Bi W; Glass IA; Muzny DM; Gibbs RA; Eng CM; Yang Y; Sun A
Am J Med Genet A; 2016 Aug; 170(8):2181-5. PubMed ID: 27170158
[TBL] [Abstract][Full Text] [Related]
35. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Blanchard MG; Willemsen MH; Walker JB; Dib-Hajj SD; Waxman SG; Jongmans MC; Kleefstra T; van de Warrenburg BP; Praamstra P; Nicolai J; Yntema HG; Bindels RJ; Meisler MH; Kamsteeg EJ
J Med Genet; 2015 May; 52(5):330-7. PubMed ID: 25725044
[TBL] [Abstract][Full Text] [Related]
36. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen S; Kleefstra T; Willemsen MH; de Vries P; Pfundt R; Hehir-Kwa JY; Gilissen C; Veltman JA; de Vries BB; Vissers LE
Clin Genet; 2016 Nov; 90(5):413-419. PubMed ID: 26752331
[TBL] [Abstract][Full Text] [Related]
37. Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
Dafsari HS; Sprute R; Wunderlich G; Daimagüler HS; Karaca E; Contreras A; Becker K; Schulze-Rhonhof M; Kiening K; Karakulak T; Kloss M; Horn A; Pauls A; Nürnberg P; Altmüller J; Thiele H; Assmann B; Koy A; Cirak S
J Hum Genet; 2019 Aug; 64(8):803-813. PubMed ID: 31165786
[TBL] [Abstract][Full Text] [Related]
38. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
Lumish HS; Wynn J; Devinsky O; Chung WK
J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
[TBL] [Abstract][Full Text] [Related]
39. Epilepsy with eyelid myoclonia with atonic seizures and generalized paroxysmal fast activity: A novel electroclinical phenotype associated with SETD1B pathogenic variant.
Ng VHL; Hart F; Kothur K; Buckley M; Harb C; Gill D
Epileptic Disord; 2024 Apr; 26(2):250-253. PubMed ID: 38108116
[No Abstract] [Full Text] [Related]
40. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Han JY; Lee IG; Jang W; Kim M; Kim Y; Jang JH; Park J
Eur J Med Genet; 2017 Oct; 60(10):559-564. PubMed ID: 28807762
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
