BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

280 related articles for article (PubMed ID: 28728838)

  • 21. 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]  

  • 22. A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.
    Benetou C; Papailiou S; Maritsi D; Anagnostopoulou K; Kontos H; Vartzelis G
    Turk J Pediatr; 2019; 61(2):279-281. PubMed ID: 31951342
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
    Dedek K; Fusco L; Teloy N; Steinlein OK
    Epilepsy Res; 2003 Apr; 54(1):21-7. PubMed ID: 12742592
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Vitamin B6-Responsive Epilepsy due to a Novel KCNQ2 Mutation.
    Klotz KA; Lemke JR; Korinthenberg R; Jacobs J
    Neuropediatrics; 2017 Jun; 48(3):199-204. PubMed ID: 28420012
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
    Hewson S; Puka K; Mercimek-Mahmutoglu S
    Am J Med Genet A; 2017 Aug; 173(8):2226-2230. PubMed ID: 28602030
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.
    Chen J; Tao Q; Fan L; Shen Y; Liu J; Luo H; Yang Z; Liang M; Gan J
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2024. PubMed ID: 35906921
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.
    Chokvithaya S; Caengprasath N; Buasong A; Jantasuwan S; Santawong K; Leela-Adisorn N; Tongkobpetch S; Ittiwut C; Saengow VE; Kamolvisit W; Boonsimma P; Bongsebandhu-Phubhakdi S; Shotelersuk V
    Sci Rep; 2023 Feb; 13(1):3328. PubMed ID: 36849527
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
    Milh M; Roubertoux P; Biba N; Chavany J; Spiga Ghata A; Fulachier C; Collins SC; Wagner C; Roux JC; Yalcin B; Félix MS; Molinari F; Lenck-Santini PP; Villard L
    Epilepsia; 2020 May; 61(5):868-878. PubMed ID: 32239694
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Effect of total callosotomy on KCNQ2-related intractable epilepsy.
    Yamamoto A; Saito Y; Oyama Y; Watanabe Y; Ikeda A; Takayama R; Ikeda H; Takeshita S; Takumi I; Itai T; Miyatake S; Matsumoto N
    Brain Dev; 2020 Sep; 42(8):612-616. PubMed ID: 32532640
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The variable phenotypes of KCNQ-related epilepsy.
    Allen NM; Mannion M; Conroy J; Lynch SA; Shahwan A; Lynch B; King MD
    Epilepsia; 2014 Sep; 55(9):e99-105. PubMed ID: 25052858
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter.
    Nissenkorn A; Kornilov P; Peretz A; Blumkin L; Heimer G; Ben-Zeev B; Attali B
    Epileptic Disord; 2021 Oct; 23(5):695-705. PubMed ID: 34519644
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy.
    Buttle SG; Sell E; Dyment D; Bulusu S; Pohl D
    Epileptic Disord; 2017 Sep; 19(3):351-356. PubMed ID: 28832002
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
    Heron SE; Cox K; Grinton BE; Zuberi SM; Kivity S; Afawi Z; Straussberg R; Berkovic SF; Scheffer IE; Mulley JC
    J Med Genet; 2007 Dec; 44(12):791-6. PubMed ID: 17675531
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.
    Kuersten M; Tacke M; Gerstl L; Hoelz H; Stülpnagel CV; Borggraefe I
    Eur J Med Genet; 2020 Jan; 63(1):103628. PubMed ID: 30771507
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Video/EEG findings in a KCNQ2 epileptic encephalopathy: a case report and revision of literature data.
    Serino D; Specchio N; Pontrelli G; Vigevano F; Fusco L
    Epileptic Disord; 2013 Jun; 15(2):158-65. PubMed ID: 23774309
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel
    Liu HF; Yuan TY; Yang JW; Li F; Wang F; Fu HM
    Mol Med Rep; 2022 Sep; 26(3):. PubMed ID: 35856407
    [TBL] [Abstract][Full Text] [Related]  

  • 37. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
    Neubauer BA; Waldegger S; Heinzinger J; Hahn A; Kurlemann G; Fiedler B; Eberhard F; Muhle H; Stephani U; Garkisch S; Eeg-Olofsson O; Müller U; Sander T
    Neurology; 2008 Jul; 71(3):177-83. PubMed ID: 18625963
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical and genetic analysis of 18 patients with
    Cao B; Peng B; Tian Y; Wang X; Li X; Zhu H; Shen H; Chen W
    Turk J Pediatr; 2024 May; 66(2):191-204. PubMed ID: 38814296
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
    Soldovieri MV; Freri E; Ambrosino P; Rivolta I; Mosca I; Binda A; Murano C; Ragona F; Canafoglia L; Vannicola C; Solazzi R; Granata T; Castellotti B; Messina G; Gellera C; Labalme A; Lesca G; DiFrancesco JC; Taglialatela M
    Pharmacol Res; 2020 Oct; 160():105200. PubMed ID: 32942014
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.
    Soldovieri MV; Ambrosino P; Mosca I; De Maria M; Moretto E; Miceli F; Alaimo A; Iraci N; Manocchio L; Medoro A; Passafaro M; Taglialatela M
    Sci Rep; 2016 Dec; 6():38167. PubMed ID: 27905566
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.