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 *

109 related articles for article (PubMed ID: 25997620)

  • 1. Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.
    Drögemöller BI
    Clin Genet; 2015 Aug; 88(2):137-9. PubMed ID: 25997620
    [No Abstract]   [Full Text] [Related]  

  • 2. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
    Syrbe S; Hedrich UBS; Riesch E; Djémié T; Müller S; Møller RS; Maher B; Hernandez-Hernandez L; Synofzik M; Caglayan HS; Arslan M; Serratosa JM; Nothnagel M; May P; Krause R; Löffler H; Detert K; Dorn T; Vogt H; Krämer G; Schöls L; Mullis PE; Linnankivi T; Lehesjoki AE; Sterbova K; Craiu DC; Hoffman-Zacharska D; Korff CM; Weber YG; Steinlin M; Gallati S; Bertsche A; Bernhard MK; Merkenschlager A; Kiess W; ; Gonzalez M; Züchner S; Palotie A; Suls A; De Jonghe P; Helbig I; Biskup S; Wolff M; Maljevic S; Schüle R; Sisodiya SM; Weckhuysen S; Lerche H; Lemke JR
    Nat Genet; 2015 Apr; 47(4):393-399. PubMed ID: 25751627
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
    Hundallah K; Alenizi A; AlHashem A; Tabarki B
    Eur J Paediatr Neurol; 2016 Jul; 20(4):657-60. PubMed ID: 27117551
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
    Masnada S; Hedrich UBS; Gardella E; Schubert J; Kaiwar C; Klee EW; Lanpher BC; Gavrilova RH; Synofzik M; Bast T; Gorman K; King MD; Allen NM; Conroy J; Ben Zeev B; Tzadok M; Korff C; Dubois F; Ramsey K; Narayanan V; Serratosa JM; Giraldez BG; Helbig I; Marsh E; O'Brien M; Bergqvist CA; Binelli A; Porter B; Zaeyen E; Horovitz DD; Wolff M; Marjanovic D; Caglayan HS; Arslan M; Pena SDJ; Sisodiya SM; Balestrini S; Syrbe S; Veggiotti P; Lemke JR; Møller RS; Lerche H; Rubboli G
    Brain; 2017 Sep; 140(9):2337-2354. PubMed ID: 29050392
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
    Corbett MA; Bellows ST; Li M; Carroll R; Micallef S; Carvill GL; Myers CT; Howell KB; Maljevic S; Lerche H; Gazina EV; Mefford HC; Bahlo M; Berkovic SF; Petrou S; Scheffer IE; Gecz J
    Neurology; 2016 Nov; 87(19):1975-1984. PubMed ID: 27733563
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.
    Schwarz N; Uysal B; Rosa F; Löffler H; Mau-Holzmann UA; Liebau S; Lerche H
    Stem Cell Res; 2018 Dec; 33():6-9. PubMed ID: 30292882
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Novel
    Imbrici P; Conte E; Blunck R; Stregapede F; Liantonio A; Tosi M; D'Adamo MC; De Luca A; Brankovic V; Zanni G
    Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34576077
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel clinical manifestations in patients with KCNA2 mutations.
    Sachdev M; Gaínza-Lein M; Tchapyjnikov D; Jiang YH; Loddenkemper T; Mikati MA
    Seizure; 2017 Oct; 51():74-76. PubMed ID: 28806589
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.
    Uysal B; Löffler H; Rosa F; Lerche H; Schwarz N
    Stem Cell Res; 2019 Oct; 40():101543. PubMed ID: 31465893
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.
    Schwarz N; Uysal B; Rosa F; Löffler H; Mau-Holzmann UA; Liebau S; Lerche H
    Stem Cell Res; 2019 May; 37():101445. PubMed ID: 31075689
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Refining Genotypes and Phenotypes in
    Döring JH; Schröter J; Jüngling J; Biskup S; Klotz KA; Bast T; Dietel T; Korenke GC; Christoph S; Brennenstuhl H; Rubboli G; Møller RS; Lesca G; Chaix Y; Kölker S; Hoffmann GF; Lemke JR; Syrbe S
    Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33802230
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Generation of a human iPSC line from an epileptic encephalopathy patient with electrical status epilepticus during sleep carrying KCNA2 (p.P405L) mutation.
    Gong P; Jiao X; Zhang Y; Yang Z
    Stem Cell Res; 2020 Dec; 49():102080. PubMed ID: 33232902
    [TBL] [Abstract][Full Text] [Related]  

  • 14. TRPM6 mutation: A novel cause of "reversible" infantile epileptic encephalopathy.
    Kekatpure MV; Gaur S; Dash GK; Kannan S
    Neurol India; 2016; 64(5):1037-8. PubMed ID: 27625251
    [No Abstract]   [Full Text] [Related]  

  • 15. Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
    Canafoglia L; Castellotti B; Ragona F; Freri E; Granata T; Chiapparini L; Gellera C; Scaioli V; Franceschetti S; DiFrancesco JC
    Seizure; 2019 Feb; 65():106-108. PubMed ID: 30660924
    [No Abstract]   [Full Text] [Related]  

  • 16. Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.
    Bahi-Buisson N; Eisermann M; Nivot S; Bellanné-Chantelot C; Dulac O; Bach N; Plouin P; Chiron C; de Lonlay P
    J Child Neurol; 2007 Sep; 22(9):1147-50. PubMed ID: 17890419
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An adult with KCNA2-related epilepsy and ataxia.
    DeKorver NW; Zhao W; Butler MR; Di Luca DG; Gurnett C; Nascimento FA
    Epileptic Disord; 2024 Apr; 26(2):264-266. PubMed ID: 38366944
    [No Abstract]   [Full Text] [Related]  

  • 18. 4-Aminopyridine is a promising treatment option for patients with gain-of-function
    Hedrich UBS; Lauxmann S; Wolff M; Synofzik M; Bast T; Binelli A; Serratosa JM; Martínez-Ulloa P; Allen NM; King MD; Gorman KM; Zeev BB; Tzadok M; Wong-Kisiel L; Marjanovic D; Rubboli G; Sisodiya SM; Lutz F; Ashraf HP; Torge K; Yan P; Bosselmann C; Schwarz N; Fudali M; Lerche H
    Sci Transl Med; 2021 Sep; 13(609):eaaz4957. PubMed ID: 34516822
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
    Millichap JJ; Miceli F; De Maria M; Keator C; Joshi N; Tran B; Soldovieri MV; Ambrosino P; Shashi V; Mikati MA; Cooper EC; Taglialatela M
    Epilepsia; 2017 Jan; 58(1):e10-e15. PubMed ID: 27861786
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
    Pena SD; Coimbra RL
    Clin Genet; 2015 Feb; 87(2):e1-3. PubMed ID: 25477152
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.