79 related articles for article (PubMed ID: 38510274)
1. De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.
Chen H; Chen Y; Wu H; Qiu X; Yu X; Wang R; Zhong J; Peng J
Seizure; 2023 Oct; 111():138-146. PubMed ID: 37633153
[TBL] [Abstract][Full Text] [Related]
2. Identification of a novel
Cui F; Wulan T; Zhang Q; Zhang VW; Jiang Y
Front Genet; 2024; 15():1371282. PubMed ID: 38510274
[No Abstract] [Full Text] [Related]
3. Case Report: Causative
Gong P; Jiao X; Yu D; Yang Z
Front Genet; 2021; 12():649556. PubMed ID: 34276763
[No Abstract] [Full Text] [Related]
4. Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.
Jackson A; Banka S; Stewart H; ; Robinson H; Lovell S; Clayton-Smith J
Am J Med Genet A; 2021 Oct; 185(10):3083-3091. PubMed ID: 34061450
[TBL] [Abstract][Full Text] [Related]
5. A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
Yi Z; Song Z; Xue J; Yang C; Li F; Pan H; Feng X; Zhang Y; Pan H
BMC Med Genomics; 2022 Oct; 15(1):216. PubMed ID: 36243722
[TBL] [Abstract][Full Text] [Related]
6. Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.
Assi J; Chyta M; Mavridis I
Childs Nerv Syst; 2023 Nov; 39(11):3295-3299. PubMed ID: 37368068
[TBL] [Abstract][Full Text] [Related]
7. Contribution of Axon Initial Segment Structure and Channels to Brain Pathology.
Garrido JJ
Cells; 2023 Apr; 12(8):. PubMed ID: 37190119
[TBL] [Abstract][Full Text] [Related]
8. KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC; Mosca I; Ambrosino P; Puzo D; Bayat A; Wortmann SB; Koch J; Strehlow V; Shirai K; Matsumoto N; Sanders SJ; Michaud V; Legendre M; Riva A; Striano P; Muhle H; Pendziwiat M; Lesca G; Mangano GD; Nardello R; ; Lemke JR; Møller RS; Soldovieri MV; Rubboli G; Taglialatela M
Ann Neurol; 2023 Aug; 94(2):332-349. PubMed ID: 37062836
[TBL] [Abstract][Full Text] [Related]
9. Identification of Sodium- and Chloride-Sensitive Sites in the Slack Channel.
Xu J; Lv YT; Zhao XY; Wang JJ; Shen ZS; Li J; Zhang FF; Liu J; Wang XH; Xu Y; Geng Q; Ding YT; Xu JJ; Tan MJ; Li ZX; Wang R; Chen J; Sun W; Cui M; Logothetis DE; Cao JL; Tang QY; Zhang Z
J Neurosci; 2023 Apr; 43(15):2665-2681. PubMed ID: 36898835
[TBL] [Abstract][Full Text] [Related]
10. Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children.
Poke G; Stanley J; Scheffer IE; Sadleir LG
Neurology; 2023 Mar; 100(13):e1363-e1375. PubMed ID: 36581463
[TBL] [Abstract][Full Text] [Related]
11. Benzodiazepines in the Management of Seizures and Status Epilepticus: A Review of Routes of Delivery, Pharmacokinetics, Efficacy, and Tolerability.
Kienitz R; Kay L; Beuchat I; Gelhard S; von Brauchitsch S; Mann C; Lucaciu A; Schäfer JH; Siebenbrodt K; Zöllner JP; Schubert-Bast S; Rosenow F; Strzelczyk A; Willems LM
CNS Drugs; 2022 Sep; 36(9):951-975. PubMed ID: 35971024
[TBL] [Abstract][Full Text] [Related]
12. Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R; Conti V; Mantegazza M; Balestrini S; Galanopoulou AS; Benfenati F
Physiol Rev; 2023 Jan; 103(1):433-513. PubMed ID: 35951482
[TBL] [Abstract][Full Text] [Related]
13. Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara ES; Mariani M; Torella A; Musacchia F; ; Nigro V; Selicorni A
Am J Med Genet A; 2022 Jun; 188(6):1661-1666. PubMed ID: 35243770
[TBL] [Abstract][Full Text] [Related]
14.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
