These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
109 related articles for article (PubMed ID: 28455667)
41. A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. Park D; Kim SH; Lee YJ; Song GJ; Park JS Acta Neurol Belg; 2018 Mar; 118(1):137-139. PubMed ID: 29442233 [No Abstract] [Full Text] [Related]
42. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Jen JC; Wan J; Palos TP; Howard BD; Baloh RW Neurology; 2005 Aug; 65(4):529-34. PubMed ID: 16116111 [TBL] [Abstract][Full Text] [Related]
43. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. Weyhrauch DL; Ye D; Boczek NJ; Tester DJ; Gavrilova RH; Patterson MC; Wieben ED; Ackerman MJ Pediatr Neurol; 2016 Feb; 55():46-51. PubMed ID: 26739101 [TBL] [Abstract][Full Text] [Related]
44. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Spacey SD; Hildebrand ME; Materek LA; Bird TD; Snutch TP Ann Neurol; 2004 Aug; 56(2):213-20. PubMed ID: 15293273 [TBL] [Abstract][Full Text] [Related]
46. The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature. Indelicato E; Nachbauer W; Karner E; Eigentler A; Wagner M; Unterberger I; Poewe W; Delazer M; Boesch S Eur J Neurol; 2019 Jan; 26(1):66-e7. PubMed ID: 30063100 [TBL] [Abstract][Full Text] [Related]
48. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. Evers JM; Laskowski RA; Bertolli M; Clayton-Smith J; Deshpande C; Eason J; Elmslie F; Flinter F; Gardiner C; Hurst JA; Kingston H; Kini U; Lampe AK; Lim D; Male A; Naik S; Parker MJ; Price S; Robert L; Sarkar A; Straub V; Woods G; Thornton JM; ; Wright CF Hum Mol Genet; 2017 Feb; 26(3):519-526. PubMed ID: 28053047 [TBL] [Abstract][Full Text] [Related]
49. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Bürk K; Kaiser FJ; Tennstedt S; Schöls L; Kreuz FR; Wieland T; Strom TM; Büttner T; Hollstein R; Braunholz D; Plaschke J; Gillessen-Kaesbach G; Zühlke C Eur J Med Genet; 2014 Apr; 57(5):207-11. PubMed ID: 24486772 [TBL] [Abstract][Full Text] [Related]
50. Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. Mantuano E; Veneziano L J Neurol Sci; 2007 Dec; 263(1-2):226; author reply 226-7. PubMed ID: 17588611 [No Abstract] [Full Text] [Related]
51. A Novel Mutation in HERC2 Gene in a Patient with Global Developmental Delay, Intellectual Disability, and Refractory Seizures. Algahtani H; Shirah B; Daghistani M; Al-Qahtani MH; Abdulkareem AA; Naseer MI Neuropediatrics; 2021 Apr; 52(2):150-152. PubMed ID: 33065750 [No Abstract] [Full Text] [Related]
52. Lethal digenic mutations in the K Hasan S; Balobaid A; Grottesi A; Dabbagh O; Cenciarini M; Rawashdeh R; Al-Sagheir A; Bove C; Macchioni L; Pessia M; Al-Owain M; D'Adamo MC J Neurophysiol; 2017 Oct; 118(4):2402-2411. PubMed ID: 28747464 [TBL] [Abstract][Full Text] [Related]
53. CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report. Hayashida T; Saito Y; Ishii A; Yamada H; Itakura A; Minato T; Fukuyama T; Maegaki Y; Hirose S Brain Dev; 2018 Feb; 40(2):130-133. PubMed ID: 28927557 [TBL] [Abstract][Full Text] [Related]
54. Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. Cleves C; Parikh S; Rothner AD; Tepper SJ Cephalalgia; 2010 Jun; 30(6):740-3. PubMed ID: 19624685 [TBL] [Abstract][Full Text] [Related]
55. Calcium channels prove to be a real headache. Miller RJ Trends Neurosci; 1997 May; 20(5):189-92. PubMed ID: 9141192 [No Abstract] [Full Text] [Related]
56. RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. Valence S; Garel C; Barth M; Toutain A; Paris C; Amsallem D; Barthez MA; Mayer M; Rodriguez D; Burglen L Clin Genet; 2016 Dec; 90(6):545-549. PubMed ID: 27000652 [TBL] [Abstract][Full Text] [Related]
57. SCA27 is a cause of early-onset ataxia and developmental delay. Planes M; Rooryck C; Vuillaume ML; Besnard L; Bouron J; Lacombe D; Arveiler B; Goizet C Eur J Paediatr Neurol; 2015 Mar; 19(2):271-3. PubMed ID: 25530029 [No Abstract] [Full Text] [Related]
58. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. Angelini C; Van Gils J; Bigourdan A; Jouk PS; Lacombe D; Menegon P; Moutton S; Riant F; Sole G; Tournier-Lasserve E; Trimouille A; Vincent M; Goizet C Eur J Med Genet; 2019 Jun; 62(6):103530. PubMed ID: 30142438 [TBL] [Abstract][Full Text] [Related]
59. Inherited Metabolic Disorders Presenting with Ataxia. Silver G; Mercimek-Andrews S Int J Mol Sci; 2020 Aug; 21(15):. PubMed ID: 32752260 [TBL] [Abstract][Full Text] [Related]
60. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. Zarate YA; Kalsner L; Basinger A; Jones JR; Li C; Szybowska M; Xu ZL; Vergano S; Caffrey AR; Gonzalez CV; Dubbs H; Zackai E; Millan F; Telegrafi A; Baskin B; Person R; Fish JL; Everman DB Clin Genet; 2017 Oct; 92(4):423-429. PubMed ID: 28139846 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]