147 related articles for article (PubMed ID: 33355533)
1. Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH.
Russo A; Gobbi G; Pini A; Møller RS; Rubboli G
Epileptic Disord; 2020 Dec; 22(6):802-806. PubMed ID: 33355533
[TBL] [Abstract][Full Text] [Related]
2. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A; Golumbek P; Cellini E; Doccini V; Guerrini R; Wallgren-Pettersson C; Thuresson AC; Gurnett CA
Am J Med Genet A; 2018 Aug; 176(8):1748-1752. PubMed ID: 30055040
[TBL] [Abstract][Full Text] [Related]
3. Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Dinoi G; Morin M; Conte E; Mor Shaked H; Coppola MA; D'Adamo MC; Elpeleg O; Liantonio A; Hartmann I; De Luca A; Blunck R; Russo A; Imbrici P
Int J Mol Sci; 2022 Jul; 23(15):. PubMed ID: 35897654
[TBL] [Abstract][Full Text] [Related]
4. Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Yuan H; Yuan H; Wang Q; Ye W; Yao R; Xu W; Liu Y
Mol Genet Genomic Med; 2020 Oct; 8(10):e1434. PubMed ID: 32705822
[TBL] [Abstract][Full Text] [Related]
5. Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine.
Manville RW; Abbott GW
J Pharmacol Exp Ther; 2020 Jun; 373(3):391-401. PubMed ID: 32217768
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants.
Miceli F; Guerrini R; Nappi M; Soldovieri MV; Cellini E; Gurnett CA; Parmeggiani L; Mei D; Taglialatela M
Epilepsia; 2022 Jan; 63(1):e7-e14. PubMed ID: 34778950
[TBL] [Abstract][Full Text] [Related]
8. Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of
Paulhus K; Glasscock E
Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240170
[TBL] [Abstract][Full Text] [Related]
9. Clinical Spectrum of
Paulhus K; Ammerman L; Glasscock E
Int J Mol Sci; 2020 Apr; 21(8):. PubMed ID: 32316562
[TBL] [Abstract][Full Text] [Related]
10. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
Brownstein CA; Beggs AH; Rodan L; Shi J; Towne MC; Pelletier R; Cao S; Rosenberg PA; Urion DK; Picker J; Tan WH; Agrawal PB
Neurogenetics; 2016 Jan; 17(1):11-6. PubMed ID: 26395884
[TBL] [Abstract][Full Text] [Related]
11. Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.
Verdura E; Fons C; Schlüter A; Ruiz M; Fourcade S; Casasnovas C; Castellano A; Pujol A
J Med Genet; 2020 Feb; 57(2):132-137. PubMed ID: 31586945
[TBL] [Abstract][Full Text] [Related]
12. Adrenocorticotropic hormone protects learning and memory function in epileptic Kcna1-null mice.
Scantlebury MH; Chun KC; Ma SC; Rho JM; Kim DY
Neurosci Lett; 2017 Apr; 645():14-18. PubMed ID: 28249786
[TBL] [Abstract][Full Text] [Related]
13. Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study.
Pavlidis E; Møller RS; Nikanorova M; Kölmel MS; Stendevad P; Beniczky S; Tassinari CA; Rubboli G; Gardella E
Epilepsy Behav; 2019 Aug; 97():244-252. PubMed ID: 31254844
[TBL] [Abstract][Full Text] [Related]
14. KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Müller P; Takacs DS; Hedrich UBS; Coorg R; Masters L; Glinton KE; Dai H; Cokley JA; Riviello JJ; Lerche H; Cooper EC
Ann Clin Transl Neurol; 2023 Apr; 10(4):656-663. PubMed ID: 36793218
[TBL] [Abstract][Full Text] [Related]
15. Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES).
Bonardi CM; Mignot C; Serratosa JM; Giraldez BG; Moretti R; Rudolf G; Reale C; Gellert PM; Johannesen KM; Lesca G; Tassinari CA; Gardella E; Møller RS; Rubboli G
Clin Neurophysiol; 2020 May; 131(5):1030-1039. PubMed ID: 32197126
[TBL] [Abstract][Full Text] [Related]
16. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD; Cha YH; Hahn AF; Barohn R; Salajegheh MK; Griggs RC; Bundy BN; Jen JC; Baloh RW; Hanna MG;
Brain; 2014 Apr; 137(Pt 4):1009-18. PubMed ID: 24578548
[TBL] [Abstract][Full Text] [Related]
17. Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.
Tristán-Clavijo E; Scholl FG; Macaya A; Iglesias G; Rojas AM; Lucas M; Castellano A; Martinez-Mir A
Mov Disord; 2016 Nov; 31(11):1743-1748. PubMed ID: 27477325
[TBL] [Abstract][Full Text] [Related]
18. A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
van der Wijst J; Konrad M; Verkaart SAJ; Tkaczyk M; Latta F; Altmüller J; Thiele H; Beck B; Schlingmann KP; de Baaij JHF
Nephron; 2018; 139(4):359-366. PubMed ID: 29791908
[TBL] [Abstract][Full Text] [Related]
19. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Mestre TA; Manole A; MacDonald H; Riazi S; Kraeva N; Hanna MG; Lang AE; Männikkö R; Yoon G
Neurogenetics; 2016 Oct; 17(4):245-249. PubMed ID: 27271339
[TBL] [Abstract][Full Text] [Related]
20. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Ishida S; Sakamoto Y; Nishio T; Baulac S; Kuwamura M; Ohno Y; Takizawa A; Kaneko S; Serikawa T; Mashimo T
Brain Res; 2012 Jan; 1435():154-66. PubMed ID: 22206926
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
