BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

669 related articles for article (PubMed ID: 23621294)

  • 1. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
    Kato M; Yamagata T; Kubota M; Arai H; Yamashita S; Nakagawa T; Fujii T; Sugai K; Imai K; Uster T; Chitayat D; Weiss S; Kashii H; Kusano R; Matsumoto A; Nakamura K; Oyazato Y; Maeno M; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Saito K; Hayasaka K; Matsumoto N; Saitsu H
    Epilepsia; 2013 Jul; 54(7):1282-7. PubMed ID: 23621294
    [TBL] [Abstract][Full Text] [Related]  

  • 2. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
    Weckhuysen S; Mandelstam S; Suls A; Audenaert D; Deconinck T; Claes LR; Deprez L; Smets K; Hristova D; Yordanova I; Jordanova A; Ceulemans B; Jansen A; Hasaerts D; Roelens F; Lagae L; Yendle S; Stanley T; Heron SE; Mulley JC; Berkovic SF; Scheffer IE; de Jonghe P
    Ann Neurol; 2012 Jan; 71(1):15-25. PubMed ID: 22275249
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
    Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
    Milh M; Boutry-Kryza N; Sutera-Sardo J; Mignot C; Auvin S; Lacoste C; Villeneuve N; Roubertie A; Heron B; Carneiro M; Kaminska A; Altuzarra C; Blanchard G; Ville D; Barthez MA; Heron D; Gras D; Afenjar A; Dorison N; Doummar D; Billette de Villemeur T; An I; Jacquette A; Charles P; Perrier J; Isidor B; Vercueil L; Chabrol B; Badens C; Lesca G; Villard L
    Orphanet J Rare Dis; 2013 May; 8():80. PubMed ID: 23692823
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
    Nakamura K; Kato M; Osaka H; Yamashita S; Nakagawa E; Haginoya K; Tohyama J; Okuda M; Wada T; Shimakawa S; Imai K; Takeshita S; Ishiwata H; Lev D; Lerman-Sagie T; Cervantes-Barragán DE; Villarroel CE; Ohfu M; Writzl K; Gnidovec Strazisar B; Hirabayashi S; Chitayat D; Myles Reid D; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Matsumoto N; Saitsu H
    Neurology; 2013 Sep; 81(11):992-8. PubMed ID: 23935176
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Early and effective treatment of KCNQ2 encephalopathy.
    Pisano T; Numis AL; Heavin SB; Weckhuysen S; Angriman M; Suls A; Podesta B; Thibert RL; Shapiro KA; Guerrini R; Scheffer IE; Marini C; Cilio MR
    Epilepsia; 2015 May; 56(5):685-91. PubMed ID: 25880994
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
    Zara F; Specchio N; Striano P; Robbiano A; Gennaro E; Paravidino R; Vanni N; Beccaria F; Capovilla G; Bianchi A; Caffi L; Cardilli V; Darra F; Bernardina BD; Fusco L; Gaggero R; Giordano L; Guerrini R; Incorpora G; Mastrangelo M; Spaccini L; Laverda AM; Vecchi M; Vanadia F; Veggiotti P; Viri M; Occhi G; Budetta M; Taglialatela M; Coviello DA; Vigevano F; Minetti C
    Epilepsia; 2013 Mar; 54(3):425-36. PubMed ID: 23360469
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
    Kojima K; Shirai K; Kobayashi M; Miyauchi A; Saitsu H; Matsumoto N; Osaka H; Yamagata T
    Brain Dev; 2018 Jan; 40(1):69-73. PubMed ID: 28687180
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical characteristics of KCNQ2 encephalopathy.
    Kim HJ; Yang D; Kim SH; Won D; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2021 Feb; 43(2):244-250. PubMed ID: 32917465
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
    Blumkin L; Suls A; Deconinck T; De Jonghe P; Linder I; Kivity S; Dabby R; Leshinsky-Silver E; Lev D; Lerman-Sagie T
    Eur J Paediatr Neurol; 2012 Jul; 16(4):356-60. PubMed ID: 22169383
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
    Weckhuysen S; Ivanovic V; Hendrickx R; Van Coster R; Hjalgrim H; Møller RS; Grønborg S; Schoonjans AS; Ceulemans B; Heavin SB; Eltze C; Horvath R; Casara G; Pisano T; Giordano L; Rostasy K; Haberlandt E; Albrecht B; Bevot A; Benkel I; Syrbe S; Sheidley B; Guerrini R; Poduri A; Lemke JR; Mandelstam S; Scheffer I; Angriman M; Striano P; Marini C; Suls A; De Jonghe P;
    Neurology; 2013 Nov; 81(19):1697-703. PubMed ID: 24107868
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C; Kato M; Takahashi S; Lerman-Sagie T; Lev D; Terashima H; Kubota M; Kawawaki H; Matsufuji M; Kojima Y; Tateno A; Goldberg-Stern H; Straussberg R; Marom D; Leshinsky-Silver E; Nakashima M; Nishiyama K; Tsurusaki Y; Miyake N; Tanaka F; Matsumoto N; Saitsu H
    Epilepsia; 2014 Jul; 55(7):994-1000. PubMed ID: 24888894
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
    Di Meglio C; Lesca G; Villeneuve N; Lacoste C; Abidi A; Cacciagli P; Altuzarra C; Roubertie A; Afenjar A; Renaldo-Robin F; Isidor B; Gautier A; Husson M; Cances C; Metreau J; Laroche C; Chouchane M; Ville D; Marignier S; Rougeot C; Lebrun M; de Saint Martin A; Perez A; Riquet A; Badens C; Missirian C; Philip N; Chabrol B; Villard L; Milh M
    Epilepsia; 2015 Dec; 56(12):1931-40. PubMed ID: 26514728
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.
    Vilan A; Mendes Ribeiro J; Striano P; Weckhuysen S; Weeke LC; Brilstra E; de Vries LS; Cilio MR
    Neonatology; 2017; 112(4):387-393. PubMed ID: 28926830
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Benign familial neonatal convulsions: novel mutation in a newborn.
    Lee IC; Chen JY; Chen YJ; Yu JS; Su PH
    Pediatr Neurol; 2009 May; 40(5):387-91. PubMed ID: 19380078
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
    Kato M; Saitsu H; Murakami Y; Kikuchi K; Watanabe S; Iai M; Miya K; Matsuura R; Takayama R; Ohba C; Nakashima M; Tsurusaki Y; Miyake N; Hamano S; Osaka H; Hayasaka K; Kinoshita T; Matsumoto N
    Neurology; 2014 May; 82(18):1587-96. PubMed ID: 24706016
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 34.