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Volumn 64, Issue , 2016, Pages 66-71

Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy

Author keywords

children; epilepsy; gene panel; next generation sequencing

Indexed keywords

LACOSAMIDE; METHYL CPG BINDING PROTEIN 2; SODIUM CHANNEL NAV1.1; TUBERIN;

EID: 84992195144     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2016.06.019     Document Type: Article
Times cited : (24)

References (12)
  • 1
    • 0034598762 scopus 로고    scopus 로고
    • Early identification of refractory epilepsy
    • 1 Kwan, P., Brodie, M.J., Early identification of refractory epilepsy. N Engl J Med 342 (2000), 314–319.
    • (2000) N Engl J Med , vol.342 , pp. 314-319
    • Kwan, P.1    Brodie, M.J.2
  • 2
    • 79953886270 scopus 로고    scopus 로고
    • Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist
    • 2 Pong, A.W., Pal, D.K., Chung, W.K., Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol 44 (2011), 317–327.
    • (2011) Pediatr Neurol , vol.44 , pp. 317-327
    • Pong, A.W.1    Pal, D.K.2    Chung, W.K.3
  • 3
    • 84929510832 scopus 로고    scopus 로고
    • Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
    • 3 Mercimek-Mahmutoglu, S., Patel, J., Cordeiro, D., et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia 56 (2015), 707–716.
    • (2015) Epilepsia , vol.56 , pp. 707-716
    • Mercimek-Mahmutoglu, S.1    Patel, J.2    Cordeiro, D.3
  • 4
    • 84865020270 scopus 로고    scopus 로고
    • Targeted next generation sequencing as a diagnostic tool in epileptic disorders
    • 4 Lemke, J.R., Riesch, E., Scheurenbrand, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 53 (2012), 1387–1398.
    • (2012) Epilepsia , vol.53 , pp. 1387-1398
    • Lemke, J.R.1    Riesch, E.2    Scheurenbrand3
  • 5
    • 77954625557 scopus 로고    scopus 로고
    • Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
    • 5 Kwan, P., Arzimanoglou, A., Berg, A.T., et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies. Epilepsia 51 (2010), 1069–1077.
    • (2010) Epilepsia , vol.51 , pp. 1069-1077
    • Kwan, P.1    Arzimanoglou, A.2    Berg, A.T.3
  • 6
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
    • 6 Berg, A.T., Berkovic, S.F., Brodie, M.J., et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009. Epilepsia 51 (2010), 676–685.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 7
    • 79953685960 scopus 로고    scopus 로고
    • The pharmacologic treatment of Dravet syndrome
    • 7 Chiron, C., Dulac, O., The pharmacologic treatment of Dravet syndrome. Epilepsia 52:Suppl 2 (2011), 72–75.
    • (2011) Epilepsia , vol.52 , pp. 72-75
    • Chiron, C.1    Dulac, O.2
  • 8
    • 79953726784 scopus 로고    scopus 로고
    • The core Dravet syndrome phenotype
    • 8 Dravet, C., The core Dravet syndrome phenotype. Epilepsia 52:Suppl 2 (2011), 3–9.
    • (2011) Epilepsia , vol.52 , pp. 3-9
    • Dravet, C.1
  • 9
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    • 9 Depienne, C., Bouteiller, D., Keren, B., et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5, 2009, e1000381.
    • (2009) PLoS Genet , vol.5 , pp. e1000381
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 10
    • 84870608256 scopus 로고    scopus 로고
    • Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy
    • 10 Marini, C., Darra, F., Specchio, N., et al. Focal seizures with affective symptoms are a major feature of PCDH19 gene–related epilepsy. Epilepsia 53 (2012), 2111–2119.
    • (2012) Epilepsia , vol.53 , pp. 2111-2119
    • Marini, C.1    Darra, F.2    Specchio, N.3
  • 11
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: revised diagnostic criteria and nomenclature
    • 11 Neul, J.L., Kaufmann, W.E., Glaze, D.G., et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68 (2010), 944–949.
    • (2010) Ann Neurol , vol.68 , pp. 944-949
    • Neul, J.L.1    Kaufmann, W.E.2    Glaze, D.G.3
  • 12
    • 60949091095 scopus 로고    scopus 로고
    • DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray
    • 12 Qu, M., Aronica, E., Boer, K., et al. DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray. Epilepsy Res 84 (2009), 33–41.
    • (2009) Epilepsy Res , vol.84 , pp. 33-41
    • Qu, M.1    Aronica, E.2    Boer, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.