165 related articles for article (PubMed ID: 37152443)
1. Distinguishing Loss-of-Function and Gain-of-Function
Hack JB; Horning K; Juroske Short DM; Schreiber JM; Watkins JC; Hammer MF
Neurol Genet; 2023 Jun; 9(3):e200060. PubMed ID: 37152443
[TBL] [Abstract][Full Text] [Related]
2. Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
Chung KM; Hack J; Andrews J; Galindo-Kelly M; Schreiber J; Watkins J; Hammer MF
Epilepsia; 2023 Dec; 64(12):3365-3376. PubMed ID: 37585367
[TBL] [Abstract][Full Text] [Related]
3. Human
Wei AD; Wakenight P; Zwingman TA; Bard AM; Sahai N; Willemsen MH; Schelhaas HJ; Stegmann APA; Verhoeven JS; de Man SA; Wessels MW; Kleefstra T; Shinde DN; Helbig KL; Basinger A; Wagner VF; Rodriguez-Buritica D; Bryant E; Millichap JJ; Millen KJ; Dobyns WB; Ramirez JM; Kalume FK
J Neurophysiol; 2022 Jul; 128(1):40-61. PubMed ID: 35583973
[TBL] [Abstract][Full Text] [Related]
4. Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy.
Jia L; Li M; Pachernegg S; Sedo A; Jancovski N; Burbano LE; Dalby K; Nemiroff A; Reid C; Maljevic S; Petrou S
J Neurochem; 2024 Mar; ():. PubMed ID: 38544375
[TBL] [Abstract][Full Text] [Related]
5. Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Conecker G; Xia MY; Hecker J; Achkar C; Cukiert C; Devries S; Donner E; Fitzgerald MP; Gardella E; Hammer M; Hegde A; Hu C; Kato M; Luo T; Schreiber JM; Wang Y; Kooistra T; Oudin M; Waldrop K; Youngquist JT; Zhang D; Wirrell E; Perry MS
Epilepsia; 2024 May; ():. PubMed ID: 38802994
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.
Hu C; Luo T; Wang Y
Seizure; 2022 Feb; 95():38-49. PubMed ID: 34979445
[TBL] [Abstract][Full Text] [Related]
7. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
Liu Y; Koko M; Lerche H
Epilepsy Res; 2021 Dec; 178():106824. PubMed ID: 34847423
[TBL] [Abstract][Full Text] [Related]
8. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne HO; Baez-Nieto D; Iqbal S; Palmer DS; Brunklaus A; May P; ; Johannesen KM; Lauxmann S; Lemke JR; Møller RS; Pérez-Palma E; Scholl UI; Syrbe S; Lerche H; Lal D; Campbell AJ; Wang HR; Pan J; Daly MJ
Sci Transl Med; 2020 Aug; 12(556):. PubMed ID: 32801145
[TBL] [Abstract][Full Text] [Related]
9. The genotype-phenotype correlations of the
Kessi M; Chen B; Pang N; Yang L; Peng J; He F; Yin F
Front Mol Neurosci; 2023; 16():1222321. PubMed ID: 37555011
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.
Bayat A; Iavarone S; Miceli F; Jakobsen AV; Johannesen KM; Nikanorova M; Ploski R; Szymanska K; Flamini R; Cooper EC; Weckhuysen S; Taglialatela M; Møller RS
Neurotherapeutics; 2024 Jan; 21(1):e00296. PubMed ID: 38241158
[TBL] [Abstract][Full Text] [Related]
11. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A; Du J; Steckler F; Ghanty II; Johannesen KM; Fenger CD; Schorge S; Baez-Nieto D; Wang HR; Allen A; Pan JQ; Lerche H; Heyne H; Symonds JD; Zuberi SM; Sanders S; Sheidley BR; Craiu D; Olson HE; Weckhuysen S; DeJonge P; Helbig I; Van Esch H; Busa T; Milh M; Isidor B; Depienne C; Poduri A; Campbell AJ; Dimidschstein J; Møller RS; Lal D
Epilepsia; 2020 Mar; 61(3):387-399. PubMed ID: 32090326
[TBL] [Abstract][Full Text] [Related]
12. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
Wang J; Gao H; Bao X; Zhang Q; Li J; Wei L; Wu X; Chen Y; Yu S
BMC Med Genet; 2017 Sep; 18(1):104. PubMed ID: 28923014
[TBL] [Abstract][Full Text] [Related]
13. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort.
Encinas AC; Moore IKM; Watkins JC; Hammer MF
Epilepsia; 2019 Aug; 60(8):1711-1720. PubMed ID: 31335965
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
Wengert ER; Tronhjem CE; Wagnon JL; Johannesen KM; Petit H; Krey I; Saga AU; Panchal PS; Strohm SM; Lange J; Kamphausen SB; Rubboli G; Lemke JR; Gardella E; Patel MK; Meisler MH; Møller RS
Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145
[TBL] [Abstract][Full Text] [Related]
16. Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
Tidball AM; Lopez-Santiago LF; Yuan Y; Glenn TW; Margolis JL; Clayton Walker J; Kilbane EG; Miller CA; Martina Bebin E; Scott Perry M; Isom LL; Parent JM
Brain; 2020 Oct; 143(10):3025-3040. PubMed ID: 32968789
[TBL] [Abstract][Full Text] [Related]
17. Identification of genomic features in the classification of loss- and gain-of-function mutation.
Jung S; Lee S; Kim S; Nam H
BMC Med Inform Decis Mak; 2015; 15 Suppl 1(Suppl 1):S6. PubMed ID: 26043747
[TBL] [Abstract][Full Text] [Related]
18. Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.
Yu W; Hill SF; Xenakis JG; Pardo-Manuel de Villena F; Wagnon JL; Meisler MH
Epilepsia; 2020 Dec; 61(12):2847-2856. PubMed ID: 33140451
[TBL] [Abstract][Full Text] [Related]
19. Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.
Cutts A; Savoie H; Hammer MF; Schreiber J; Grayson C; Luzon C; Butterfield N; Pimstone SN; Aycardi E; Harden C; Yonan C; Jen E; Nguyen T; Carmack T; Haubenberger D
Seizure; 2022 Apr; 97():50-57. PubMed ID: 35325842
[TBL] [Abstract][Full Text] [Related]
20. Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Denis J; Villeneuve N; Cacciagli P; Mignon-Ravix C; Lacoste C; Lefranc J; Napuri S; Damaj L; Villega F; Pedespan JM; Moutton S; Mignot C; Doummar D; Lion-François L; Gataullina S; Dulac O; Martin M; Gueden S; Lesca G; Julia S; Cances C; Journel H; Altuzarra C; Ben Zeev B; Afenjar A; Barth M; Villard L; Milh M
Epilepsia; 2019 May; 60(5):845-856. PubMed ID: 31026061
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]