메뉴 건너뛰기




Volumn 35, Issue , 2016, Pages 106-110

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(33)  Lotte, Jan a   Bast, Thomas b   Borusiak, Peter c   Coppola, Antonietta d   Cross, J Helen d   Dimova, Petia e   Fogarasi, Andras f   Graneß, Irene a   Guerrini, Renzo g   Hjalgrim, Helle h   Keimer, Reinhard i   Korff, Christian M j   Kurlemann, Gerhard k   Leiz, Steffen l   Linder Lucht, Michaela m   Loddenkemper, Tobias n   Makowski, Christine o   Mühe, Christian p   Nicolai, Joost q   Nikanorova, Marina h   more..


Author keywords

Antiepileptic drugs; Epilepsy; Long term effectiveness; PCDH19 mutation; Treatment

Indexed keywords

ANTICONVULSIVE AGENT; BROMIDE; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; ETHOSUXIMIDE; ETIRACETAM; GABAPENTIN; HARKOSERIDE; LAMOTRIGINE; LORAZEPAM; NITRAZEPAM; OXCARBAZEPINE; PHENOBARBITAL; PREGABALIN; PROTEIN; PROTEIN PCDH19; RUFINAMIDE; STEROID; STIRIPENTOL; SULTIAME; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; ZONISAMIDE; CADHERIN; PCDH19 PROTEIN, HUMAN;

EID: 84959522059     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2016.01.006     Document Type: Article
Times cited : (68)

References (18)
  • 1
    • 84873732250 scopus 로고    scopus 로고
    • Dravet syndrome: A genetic epileptic disorder
    • M. Akiyama, K. Kobayashi, and Y. Ohtsuka Dravet syndrome: a genetic epileptic disorder Acta Med Okayama 66 2012 369 376
    • (2012) Acta Med Okayama , vol.66 , pp. 369-376
    • Akiyama, M.1    Kobayashi, K.2    Ohtsuka, Y.3
  • 2
    • 84860650526 scopus 로고    scopus 로고
    • Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: Two novel mutations and review of the literature
    • A. Camacho, R. Simon, R. Sanz, and et al. Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature Epilepsy Behav 24 2012 134 137
    • (2012) Epilepsy Behav , vol.24 , pp. 134-137
    • Camacho, A.1    Simon, R.2    Sanz, R.3
  • 4
    • 79955022433 scopus 로고    scopus 로고
    • Current therapeutic procedures in Dravet syndrome
    • C. Chiron Current therapeutic procedures in Dravet syndrome Dev Med Child Neurol 53 2011 16 18
    • (2011) Dev Med Child Neurol , vol.53 , pp. 16-18
    • Chiron, C.1
  • 5
    • 79955014000 scopus 로고    scopus 로고
    • Molecular genetics of Dravet syndrome
    • P. de Jonghe Molecular genetics of Dravet syndrome Dev Med Child Neurol 53 2011 7 10
    • (2011) Dev Med Child Neurol , vol.53 , pp. 7-10
    • De Jonghe, P.1
  • 6
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles dravet syndrome but mainly affects females
    • C. Depienne, D. Bouteiller, B. Keren, and et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles dravet syndrome but mainly affects females PLoS Genet 5 2009 1 12
    • (2009) PLoS Genet , vol.5 , pp. 1-12
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 7
    • 78650456921 scopus 로고    scopus 로고
    • Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
    • E1959-75
    • C. Depienne, O. Trouillard, D. Bouteiller, and et al. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females Hum Mutat 32 2011 E1959-75
    • (2011) Hum Mutat , vol.32
    • Depienne, C.1    Trouillard, O.2    Bouteiller, D.3
  • 8
    • 44349150359 scopus 로고    scopus 로고
    • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    • L.M. Dibbens, P.S. Tarpey, K. Hynes, and et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment Nat Genet 40 June 2008 776 781
    • (2008) Nat Genet , vol.40 , Issue.JUNE , pp. 776-781
    • Dibbens, L.M.1    Tarpey, P.S.2    Hynes, K.3
  • 9
    • 84857922020 scopus 로고    scopus 로고
    • PCDH19 mutation in Japanese females with epilepsy
    • N. Higurashi, X. Shi, S. Yasumoto, and et al. PCDH19 mutation in Japanese females with epilepsy Epilepsy Res 99 2012 28 37
    • (2012) Epilepsy Res , vol.99 , pp. 28-37
    • Higurashi, N.1    Shi, X.2    Yasumoto, S.3
  • 10
    • 84883308034 scopus 로고    scopus 로고
    • PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy
    • N. Higurashi, M. Nakamurad, M. Sugaid, and et al. PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy Epilepsy Res 106 2013 191 199
    • (2013) Epilepsy Res , vol.106 , pp. 191-199
    • Higurashi, N.1    Nakamurad, M.2    Sugaid, M.3
  • 11
    • 84864366181 scopus 로고    scopus 로고
    • Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
    • Epub Jul 25 2012
    • A.K.-Y. Kwong, C.-W. Fung, S.-Y. Chan, and V.C.-N. Wong Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome PLoS One 7 2012 e41802 10.1371/journal.pone.0041802 Epub Jul 25 2012
    • (2012) PLoS One , vol.7 , pp. e41802
    • Kwong, A.K.-Y.1    Fung, C.-W.2    Chan, S.-Y.3    Wong, V.C.-N.4
  • 12
    • 77955881836 scopus 로고    scopus 로고
    • Protocadherin 19 mutations in girls with infantile-onset epilepsy
    • C. Marini, D. Mei, L. Parmeggiani, and et al. Protocadherin 19 mutations in girls with infantile-onset epilepsy Neurology 75 2011 646 653
    • (2011) Neurology , vol.75 , pp. 646-653
    • Marini, C.1    Mei, D.2    Parmeggiani, L.3
  • 13
    • 84865707720 scopus 로고    scopus 로고
    • Complex single gene disorders and epilepsy
    • A. Merwick, M. O'Brien, and N. Delanty Complex single gene disorders and epilepsy Epilepsia 53 2012 81 91
    • (2012) Epilepsia , vol.53 , pp. 81-91
    • Merwick, A.1    O'Brien, M.2    Delanty, N.3
  • 14
    • 41849135737 scopus 로고    scopus 로고
    • Epilepsy and mental retardation limited to females: An under-recognized disorder
    • I.E. Scheffer, S.J. Turner, L.M. Dibbens, and et al. Epilepsy and mental retardation limited to females: an under-recognized disorder Brain 131 2008 918 927
    • (2008) Brain , vol.131 , pp. 918-927
    • Scheffer, I.E.1    Turner, S.J.2    Dibbens, L.M.3
  • 15
    • 0029102310 scopus 로고
    • Clobazam in long-term epilepsy treatment: Sustained responders versus those developing, tolerance
    • A. Singh, A.H. Guberman, and D. Boisvert Clobazam in long-term epilepsy treatment: sustained responders versus those developing, tolerance Epilepsia 36 1995 798 803
    • (1995) Epilepsia , vol.36 , pp. 798-803
    • Singh, A.1    Guberman, A.H.2    Boisvert, D.3
  • 16
    • 53349151352 scopus 로고    scopus 로고
    • Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) - A nationwide questionnaire survey
    • T. Tanabe, Y. Awaya, T. Matsuishi, and et al. Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) - a nationwide questionnaire survey Japan Brain Dev 30 2008 629 635
    • (2008) Japan Brain Dev , vol.30 , pp. 629-635
    • Tanabe, T.1    Awaya, Y.2    Matsuishi, T.3
  • 17
    • 84868282117 scopus 로고    scopus 로고
    • Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR
    • A. Terracciano, N. Specchio, F. Darra, and et al. Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR Neurogenetics 13 November 2012 341 345
    • (2012) Neurogenetics , vol.13 , Issue.NOVEMBER , pp. 341-345
    • Terracciano, A.1    Specchio, N.2    Darra, F.3
  • 18
    • 84923133010 scopus 로고    scopus 로고
    • Extending the use of stiripentol to other epileptic syndromes. A case of PCDH19-related epilepsy
    • M. Trivisano, N. Specchio, and F. Vigevano Extending the use of stiripentol to other epileptic syndromes. A case of PCDH19-related epilepsy Eur J Paediatr Neurol 19 2015 248 250
    • (2015) Eur J Paediatr Neurol , vol.19 , pp. 248-250
    • Trivisano, M.1    Specchio, N.2    Vigevano, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.