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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

740 related articles for article (PubMed ID: 27250579)

  • 1. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
    Reinson K; Õiglane-Shlik E; Talvik I; Vaher U; Õunapuu A; Ennok M; Teek R; Pajusalu S; Murumets Ü; Tomberg T; Puusepp S; Piirsoo A; Reimand T; Õunap K
    Am J Med Genet A; 2016 Aug; 170(8):2173-6. PubMed ID: 27250579
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
    Travaglini L; Nardella M; Bellacchio E; D'Amico A; Capuano A; Frusciante R; Di Capua M; Cusmai R; Barresi S; Morlino S; Fernández-Fernández JM; Trivisano M; Specchio N; Valeriani M; Vigevano F; Bertini E; Zanni G
    Eur J Paediatr Neurol; 2017 May; 21(3):450-456. PubMed ID: 28007337
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in
    Mammadova D; Kraus C; Leis T; Popp B; Zweier C; Reis A; Trollmann R
    Front Neurol; 2024; 15():1458109. PubMed ID: 39416668
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
    Stendel C; D'Adamo MC; Wiessner M; Dusl M; Cenciarini M; Belia S; Nematian-Ardestani E; Bauer P; Senderek J; Klopstock T; Pessia M
    Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32471306
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
    Punetha J; Karaca E; Gezdirici A; Lamont RE; Pehlivan D; Marafi D; Appendino JP; Hunter JV; Akdemir ZC; Fatih JM; Jhangiani SN; Gibbs RA; Innes AM; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2019 Aug; 6(8):1395-1406. PubMed ID: 31402629
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8.
    Zhang L; Wen Y; Zhang Q; Chen Y; Wang J; Shi K; Du L; Bao X
    Front Pediatr; 2020; 8():577544. PubMed ID: 33425808
    [No Abstract]   [Full Text] [Related]  

  • 9. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
    Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R;
    Brain; 2021 Jun; 144(5):1435-1450. PubMed ID: 33880529
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.
    Hady-Cohen R; Ben-Pazi H; Adir V; Yosovich K; Blumkin L; Lerman-Sagie T; Lev D
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1133-1138. PubMed ID: 30100179
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.
    Naik S; Pohl K; Malik M; Siddiqui A; Josifova D
    Pediatr Neurol; 2011 Nov; 45(5):328-30. PubMed ID: 22000314
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    García Segarra N; Gautschi I; Mittaz-Crettol L; Kallay Zetchi C; Al-Qusairi L; Van Bemmelen MX; Maeder P; Bonafé L; Schild L; Roulet-Perez E
    J Neurol Sci; 2014 Jul; 342(1-2):69-78. PubMed ID: 24836863
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
    Ducros A; Denier C; Joutel A; Vahedi K; Michel A; Darcel F; Madigand M; Guerouaou D; Tison F; Julien J; Hirsch E; Chedru F; Bisgård C; Lucotte G; Després P; Billard C; Barthez MA; Ponsot G; Bousser MG; Tournier-Lasserve E
    Am J Hum Genet; 1999 Jan; 64(1):89-98. PubMed ID: 9915947
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
    Damaj L; Lupien-Meilleur A; Lortie A; Riou É; Ospina LH; Gagnon L; Vanasse C; Rossignol E
    Eur J Hum Genet; 2015 Nov; 23(11):1505-12. PubMed ID: 25735478
    [TBL] [Abstract][Full Text] [Related]  

  • 15. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
    Le Roux M; Barth M; Gueden S; Desbordes de Cepoy P; Aeby A; Vilain C; Hirsch E; de Saint Martin A; Portes VD; Lesca G; Riquet A; Chaton L; Villeneuve N; Villard L; Cances C; Valton L; Renaldo F; Vermersch AI; Altuzarra C; Nguyen-Morel MA; Van Gils J; Angelini C; Biraben A; Arnaud L; Riant F; Van Bogaert P
    Eur J Paediatr Neurol; 2021 Jul; 33():75-85. PubMed ID: 34102571
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
    Cricchi F; Di Lorenzo C; Grieco GS; Rengo C; Cardinale A; Racaniello M; Santorelli FM; Nappi G; Pierelli F; Casali C
    J Neurol Sci; 2007 Mar; 254(1-2):69-71. PubMed ID: 17292920
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.
    Wong-Spracklen VMY; Kolesnik A; Eck J; Sabanathan S; Spasic-Boskovic O; Maw A; Baker K
    Am J Med Genet A; 2022 Nov; 188(11):3306-3311. PubMed ID: 36063114
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
    Nevanlinna V; Konovalova S; Ceulemans B; Muona M; Laari A; Hilander T; Gorski K; Valanne L; Anttonen AK; Tyynismaa H; Courage C; Lehesjoki AE
    Eur J Med Genet; 2020 Mar; 63(3):103766. PubMed ID: 31536827
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.
    Duque KR; Marsili L; Sturchio A; Mahajan A; Merola A; Espay AJ; Kauffman MA
    Cerebellum; 2021 Feb; 20(1):134-139. PubMed ID: 32888184
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
    Battistini S; Stenirri S; Piatti M; Gelfi C; Righetti PG; Rocchi R; Giannini F; Battistini N; Guazzi GC; Ferrari M; Carrera P
    Neurology; 1999 Jul; 53(1):38-43. PubMed ID: 10408534
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 37.