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 *

349 related articles for article (PubMed ID: 26677014)

  • 21. PRRT2 mutation causes benign familial infantile convulsions.
    de Vries B; Callenbach PM; Kamphorst JT; Weller CM; Koelewijn SC; ten Houten R; de Coo IF; Brouwer OF; van den Maagdenberg AM
    Neurology; 2012 Nov; 79(21):2154-5. PubMed ID: 23077019
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.
    Labate A; Tarantino P; Palamara G; Gagliardi M; Cavalcanti F; Ferlazzo E; Sturniolo M; Incorpora G; Annesi G; Aguglia U; Gambardella A
    Epilepsy Res; 2013 May; 104(3):280-4. PubMed ID: 23352743
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Autosomal dominant SCN8A mutation with an unusually mild phenotype.
    Anand G; Collett-White F; Orsini A; Thomas S; Jayapal S; Trump N; Zaiwalla Z; Jayawant S
    Eur J Paediatr Neurol; 2016 Sep; 20(5):761-5. PubMed ID: 27210545
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Unusual variability of PRRT2 linked phenotypes within a family.
    Brueckner F; Kohl B; Puest B; Gassner S; Osseforth J; Lindenau M; Stodieck S; Biskup S; Lohmann E
    Eur J Paediatr Neurol; 2014 Jul; 18(4):540-2. PubMed ID: 24755245
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
    Ma H; Feng S; Deng X; Wang L; Zeng S; Wang C; Ma X; Sun H; Chen R; Du S; Mao J; Zhang X; Ma C; Jiang H; Zhang L; Tang B; Liu JY
    Epilepsia; 2018 Aug; 59(8):1621-1630. PubMed ID: 30009426
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions.
    Steinlein OK; Villain M; Korenke C
    Seizure; 2012 Nov; 21(9):740-2. PubMed ID: 22877996
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.
    Rochette J; Roll P; Szepetowski P
    J Med Genet; 2008 Dec; 45(12):773-9. PubMed ID: 19047496
    [TBL] [Abstract][Full Text] [Related]  

  • 28. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
    Heron SE; Grinton BE; Kivity S; Afawi Z; Zuberi SM; Hughes JN; Pridmore C; Hodgson BL; Iona X; Sadleir LG; Pelekanos J; Herlenius E; Goldberg-Stern H; Bassan H; Haan E; Korczyn AD; Gardner AE; Corbett MA; Gécz J; Thomas PQ; Mulley JC; Berkovic SF; Scheffer IE; Dibbens LM
    Am J Hum Genet; 2012 Jan; 90(1):152-60. PubMed ID: 22243967
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.
    Labate A; Tarantino P; Viri M; Mumoli L; Gagliardi M; Romeo A; Zara F; Annesi G; Gambardella A
    Epilepsia; 2012 Dec; 53(12):e196-9. PubMed ID: 23126439
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
    Ono S; Yoshiura K; Kinoshita A; Kikuchi T; Nakane Y; Kato N; Sadamatsu M; Konishi T; Nagamitsu S; Matsuura M; Yasuda A; Komine M; Kanai K; Inoue T; Osamura T; Saito K; Hirose S; Koide H; Tomita H; Ozawa H; Niikawa N; Kurotaki N
    J Hum Genet; 2012 May; 57(5):338-41. PubMed ID: 22399141
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin.
    van Strien TW; van Rootselaar AF; Hilgevoord AA; Linssen WH; Groffen AJ; Tijssen MA
    Parkinsonism Relat Disord; 2012 Jun; 18(5):645-8. PubMed ID: 22464846
    [TBL] [Abstract][Full Text] [Related]  

  • 32. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
    Marini C; Conti V; Mei D; Battaglia D; Lettori D; Losito E; Bruccini G; Tortorella G; Guerrini R
    Neurology; 2012 Nov; 79(21):2109-14. PubMed ID: 23077026
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
    Zhang LM; An Y; Pan G; Ding YF; Zhou YF; Yao YH; Wu BL; Zhou SZ
    J Child Neurol; 2015 Sep; 30(10):1263-9. PubMed ID: 25403460
    [TBL] [Abstract][Full Text] [Related]  

  • 34. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
    Okumura A; Shimojima K; Kurahashi H; Numoto S; Shimada S; Ishii A; Ohmori I; Takahashi S; Awaya T; Kubota T; Sakakibara T; Ishihara N; Hattori A; Torisu H; Tohyama J; Inoue T; Haibara A; Nishida T; Yuhara Y; Miya K; Tanaka R; Hirose S; Yamamoto T
    Seizure; 2019 Oct; 71():1-5. PubMed ID: 31154286
    [TBL] [Abstract][Full Text] [Related]  

  • 35. TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions.
    Wang H; Huang P; Zhu M; Fang X; Wu C; Hong D
    Neurol Sci; 2022 Oct; 43(10):6095-6099. PubMed ID: 35727387
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.
    Yang L; You C; Qiu S; Yang X; Li Y; Liu F; Zhang D; Niu Y; Xu L; Xu N; Li X; Luo F; Yang J; Li B
    Brain Behav; 2020 May; 10(5):e01597. PubMed ID: 32237035
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
    Tian WT; Huang XJ; Mao X; Liu Q; Liu XL; Zeng S; Guo XN; Shen JY; Xu YQ; Tang HD; Yin XM; Zhang M; Tang WG; Liu XR; Tang BS; Chen SD; Cao L
    Mov Disord; 2018 Mar; 33(3):459-467. PubMed ID: 29356177
    [TBL] [Abstract][Full Text] [Related]  

  • 38. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
    Wang J; Gao H; Bao X; Zhang Q; Li J; Wei L; Wu X; Chen Y; Yu S
    BMC Med Genet; 2017 Sep; 18(1):104. PubMed ID: 28923014
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
    Silveira-Moriyama L; Gardiner AR; Meyer E; King MD; Smith M; Rakshi K; Parker A; Mallick AA; Brown R; Vassallo G; Jardine PE; Guerreiro MM; Lees AJ; Houlden H; Kurian MA
    Dev Med Child Neurol; 2013 Apr; 55(4):327-34. PubMed ID: 23363396
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.
    Sangu N; Shimojima K; Akihisa O; Ando T; Yamamoto T
    Epilepsy Res; 2015 Dec; 118():10-3. PubMed ID: 26561923
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 18.