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Volumn 13, Issue 1, 2016, Pages 190-191

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; OXCARBAZEPINE; PHENYTOIN; SODIUM CHANNEL BLOCKING AGENT; SODIUM CHANNEL NAV1.6; NERVE PROTEIN;

EID: 84955329488     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-015-0403-5     Document Type: Editorial
Times cited : (33)

References (11)
  • 1
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • COI: 1:CAS:528:DC%2BC38XivFynurY%3D, PID: 22365152
    • Veeramah KR, O’Brien JE, Meisler MH, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012;90:502-510.
    • (2012) Am J Hum Genet , vol.90 , pp. 502-510
    • Veeramah, K.R.1    O’Brien, J.E.2    Meisler, M.H.3
  • 2
    • 84925375639 scopus 로고    scopus 로고
    • The phenotypic spectrum of SCN8A encephalopathy
    • COI: 1:CAS:528:DC%2BC2MXjt1agurY%3D, PID: 25568300
    • Larsen J, Carvill GL, Gardella E, et al. The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015;84:480-489.
    • (2015) Neurology , vol.84 , pp. 480-489
    • Larsen, J.1    Carvill, G.L.2    Gardella, E.3
  • 3
    • 84930641362 scopus 로고    scopus 로고
    • Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy
    • PID: 26029160
    • Wagnon JL, Meisler MH. Recurrent and non-recurrent mutations of SCN8A in epileptic encephalopathy. Front Neurol 2015;6:104.
    • (2015) Front Neurol , vol.6 , pp. 104
    • Wagnon, J.L.1    Meisler, M.H.2
  • 4
    • 84930618852 scopus 로고    scopus 로고
    • De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
    • COI: 1:CAS:528:DC%2BC2MXhtFymtrjJ, PID: 25725044
    • Blanchard MG, Willemsen MH, Walker JB, et al. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet 2015;52:330-337.
    • (2015) J Med Genet , vol.52 , pp. 330-337
    • Blanchard, M.G.1    Willemsen, M.H.2    Walker, J.B.3
  • 5
    • 84902106984 scopus 로고    scopus 로고
    • A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
    • COI: 1:CAS:528:DC%2BC2cXhtFCqt7bJ, PID: 24874546
    • Estacion M, O'Brien JE, Conravey A, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis 2014;69:117-123.
    • (2014) Neurobiol Dis , vol.69 , pp. 117-123
    • Estacion, M.1    O'Brien, J.E.2    Conravey, A.3
  • 6
    • 84940606174 scopus 로고    scopus 로고
    • Electroclinical features of epileptic encephalopathy caused by SCN8A mutation
    • COI: 1:CAS:528:DC%2BC2MXhsVCiu7fP, PID: 25951352
    • Takahashi S, Yamamoto S, Okayama A, et al. Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. Pediatr Int 2015;57:758-762.
    • (2015) Pediatr Int , vol.57 , pp. 758-762
    • Takahashi, S.1    Yamamoto, S.2    Okayama, A.3
  • 7
    • 84924979951 scopus 로고    scopus 로고
    • SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability
    • COI: 1:CAS:528:DC%2BC2MXkvVGrsbs%3D, PID: 25785782
    • Kong W, Zhang Y, Gao Y, et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia 2015;56:431-438.
    • (2015) Epilepsia , vol.56 , pp. 431-438
    • Kong, W.1    Zhang, Y.2    Gao, Y.3
  • 8
    • 84904392275 scopus 로고    scopus 로고
    • Early onset epileptic encephalopathy caused by de novo SCN8A mutations
    • COI: 1:CAS:528:DC%2BC2cXhtFOltLjF, PID: 24888894
    • Ohba C, Kato M, Takahashi S, et al. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia 2014; 55:994-1000.
    • (2014) Epilepsia , vol.55 , pp. 994-1000
    • Ohba, C.1    Kato, M.2    Takahashi, S.3
  • 9
    • 84925352294 scopus 로고    scopus 로고
    • Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
    • COI: 1:STN:280:DC%2BC2Mnnt1Ortw%3D%3D, PID: 25799905
    • Singh R, Jayapal S, Goyal S, et al. Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. Seizure 2015;26:69-71.
    • (2015) Seizure , vol.26 , pp. 69-71
    • Singh, R.1    Jayapal, S.2    Goyal, S.3
  • 10
    • 84955359657 scopus 로고    scopus 로고
    • Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach
    • Boerma RS, Braun KP, van de Broek MP, et al. Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: a molecular neuropharmacological approach. Neurotherapeutics 2015.
    • (2015) Neurotherapeutics
    • Boerma, R.S.1    Braun, K.P.2    van de Broek, M.P.3
  • 11
    • 0030949912 scopus 로고    scopus 로고
    • Carbamazepine inhibition of neuronal Na + currents: quantitative distinction from phenytoin and possible therapeutic implications
    • COI: 1:CAS:528:DyaK2sXjvFWktbw%3D, PID: 9187275
    • Kuo CC, Chen RS, Lu L, et al. Carbamazepine inhibition of neuronal Na + currents: quantitative distinction from phenytoin and possible therapeutic implications. Mol Pharmacol 1997; 51:1077-1083.
    • (1997) Mol Pharmacol , vol.51 , pp. 1077-1083
    • Kuo, C.C.1    Chen, R.S.2    Lu, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.