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Volumn 57, Issue 12, 2016, Pages 2019-2030

Rapid and safe response to low-dose carbamazepine in neonatal epilepsy

Author keywords

Benign familial neonatal epilepsy; Carbamazepine; KCNQ2; KCNQ3; Neonatal seizures; Oxcarbazepine

Indexed keywords

CARBAMAZEPINE; OXCARBAZEPINE; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; SODIUM CHANNEL NAV1.2; ANTICONVULSIVE AGENT; POTASSIUM CHANNEL; SCN2A PROTEIN, HUMAN;

EID: 85002919122     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13596     Document Type: Article
Times cited : (101)

References (36)
  • 1
    • 84874671111 scopus 로고    scopus 로고
    • Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance
    • Zara F, Specchio N, Striano P, et al. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Epilepsia 2013;54:425–436.
    • (2013) Epilepsia , vol.54 , pp. 425-436
    • Zara, F.1    Specchio, N.2    Striano, P.3
  • 2
    • 84904913257 scopus 로고    scopus 로고
    • Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam
    • Maeda T, Shimizu M, Sekiguchi K, et al. Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam. Pediatr Neurol 2014;51:259–261.
    • (2014) Pediatr Neurol , vol.51 , pp. 259-261
    • Maeda, T.1    Shimizu, M.2    Sekiguchi, K.3
  • 3
    • 84936846608 scopus 로고    scopus 로고
    • Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome
    • Grinton BE, Heron SE, Pelekanos JT, et al. Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. Epilepsia 2015;56:1071–1080.
    • (2015) Epilepsia , vol.56 , pp. 1071-1080
    • Grinton, B.E.1    Heron, S.E.2    Pelekanos, J.T.3
  • 4
    • 79951649012 scopus 로고    scopus 로고
    • Video-EEG monitoring in newborns with hypoxic-ischemic encephalopathy treated with hypothermia
    • Nash KB, Bonifacio SL, Glass HC, et al. Video-EEG monitoring in newborns with hypoxic-ischemic encephalopathy treated with hypothermia. Neurology 2011;76:556–562.
    • (2011) Neurology , vol.76 , pp. 556-562
    • Nash, K.B.1    Bonifacio, S.L.2    Glass, H.C.3
  • 5
    • 34247869851 scopus 로고    scopus 로고
    • Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions
    • Soldovieri MV, Cilio MR, Miceli F, et al. Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. J Neurosci 2007;27:4919–4928.
    • (2007) J Neurosci , vol.27 , pp. 4919-4928
    • Soldovieri, M.V.1    Cilio, M.R.2    Miceli, F.3
  • 6
    • 84893921173 scopus 로고    scopus 로고
    • Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A
    • Soldovieri MV, Boutry-Kryza N, Milh M, et al. Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Hum Mutat 2014;35:356–367.
    • (2014) Hum Mutat , vol.35 , pp. 356-367
    • Soldovieri, M.V.1    Boutry-Kryza, N.2    Milh, M.3
  • 7
    • 0035026704 scopus 로고    scopus 로고
    • Predicting deleterious amino acid substitutions
    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863–874.
    • (2001) Genome Res , vol.11 , pp. 863-874
    • Ng, P.C.1    Henikoff, S.2
  • 8
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: predicting amino acid changes that affect protein function
    • Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812–3814.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 9
    • 70350144535 scopus 로고    scopus 로고
    • Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures
    • Kurahashi H, Wang JW, Ishii A, et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology 2009;73:1214–1217.
    • (2009) Neurology , vol.73 , pp. 1214-1217
    • Kurahashi, H.1    Wang, J.W.2    Ishii, A.3
  • 10
    • 37249047395 scopus 로고    scopus 로고
    • Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
    • Heron SE, Cox K, Grinton BE, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet 2007;44:791–796.
    • (2007) J Med Genet , vol.44 , pp. 791-796
    • Heron, S.E.1    Cox, K.2    Grinton, B.E.3
  • 11
    • 18844468798 scopus 로고    scopus 로고
    • A novel mutation of KCNQ3 (c.925T–>C) in a Japanese family with benign familial neonatal convulsions
    • Hirose S, Zenri F, Akiyoshi H, et al. A novel mutation of KCNQ3 (c.925T–>C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol 2000;47:822–826.
    • (2000) Ann Neurol , vol.47 , pp. 822-826
    • Hirose, S.1    Zenri, F.2    Akiyoshi, H.3
  • 12
    • 60949097782 scopus 로고    scopus 로고
    • Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC)
    • Sugiura Y, Nakatsu F, Hiroyasu K, et al. Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC). Epilepsy Res 2009;84:82–85.
    • (2009) Epilepsy Res , vol.84 , pp. 82-85
    • Sugiura, Y.1    Nakatsu, F.2    Hiroyasu, K.3
  • 13
    • 43549119011 scopus 로고    scopus 로고
    • Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy
    • Uehara A, Nakamura Y, Shioya T, et al. Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy. J Membr Biol 2008;222:55–63.
    • (2008) J Membr Biol , vol.222 , pp. 55-63
    • Uehara, A.1    Nakamura, Y.2    Shioya, T.3
  • 14
    • 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
    • Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51:676–685.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 15
    • 0035846567 scopus 로고    scopus 로고
    • The localizing value of ictal EEG in focal epilepsy
    • Foldvary N, Klem G, Hammel J, et al. The localizing value of ictal EEG in focal epilepsy. Neurology 2001;57:2022–2028.
    • (2001) Neurology , vol.57 , pp. 2022-2028
    • Foldvary, N.1    Klem, G.2    Hammel, J.3
  • 16
    • 0029143574 scopus 로고
    • Seizures involving the supplementary sensorimotor area in children: a video-EEG analysis
    • Connolly MB, Langill L, Wong PK, et al. Seizures involving the supplementary sensorimotor area in children: a video-EEG analysis. Epilepsia 1995;36:1025–1032.
    • (1995) Epilepsia , vol.36 , pp. 1025-1032
    • Connolly, M.B.1    Langill, L.2    Wong, P.K.3
  • 17
    • 0026776901 scopus 로고
    • Benign infantile familial convulsions
    • Vigevano F, Fusco L, Di Capua M, et al. Benign infantile familial convulsions. Eur J Pediatr 1992;151:608–612.
    • (1992) Eur J Pediatr , vol.151 , pp. 608-612
    • Vigevano, F.1    Fusco, L.2    Di Capua, M.3
  • 18
    • 0028011992 scopus 로고
    • Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515–517.
    • (1994) Lancet , vol.343 , pp. 515-517
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 19
    • 67349211735 scopus 로고    scopus 로고
    • Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures
    • Miceli F, Soldovieri MV, Lugli L, et al. Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiol Dis 2009;34:501–510.
    • (2009) Neurobiol Dis , vol.34 , pp. 501-510
    • Miceli, F.1    Soldovieri, M.V.2    Lugli, L.3
  • 20
    • 0029832762 scopus 로고    scopus 로고
    • Treatment of neonatal seizures with carbamazepine
    • Singh B, Singh P, Al Hifzi I, et al. Treatment of neonatal seizures with carbamazepine. J Child Neurol 1996;11:378–382.
    • (1996) J Child Neurol , vol.11 , pp. 378-382
    • Singh, B.1    Singh, P.2    Al Hifzi, I.3
  • 21
    • 0034925794 scopus 로고    scopus 로고
    • Carbamazepine in phenobarbital-nonresponders: experience with ten preterm infants
    • Hoppen T, Elger CE, Bartmann P. Carbamazepine in phenobarbital-nonresponders: experience with ten preterm infants. Eur J Pediatr 2001;160:444–447.
    • (2001) Eur J Pediatr , vol.160 , pp. 444-447
    • Hoppen, T.1    Elger, C.E.2    Bartmann, P.3
  • 22
    • 84929517245 scopus 로고    scopus 로고
    • Early and effective treatment of KCNQ2 encephalopathy
    • Pisano T, Numis AL, Heavin SB, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia 2015;56:685–691.
    • (2015) Epilepsia , vol.56 , pp. 685-691
    • Pisano, T.1    Numis, A.L.2    Heavin, S.B.3
  • 23
    • 84895767176 scopus 로고    scopus 로고
    • KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response
    • Numis AL, Angriman M, Sullivan JE, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology 2014;82:368–370.
    • (2014) Neurology , vol.82 , pp. 368-370
    • Numis, A.L.1    Angriman, M.2    Sullivan, J.E.3
  • 24
    • 33644819526 scopus 로고    scopus 로고
    • A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon
    • Pan Z, Kao T, Horvath Z, et al. A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 2006;26:2599–2613.
    • (2006) J Neurosci , vol.26 , pp. 2599-2613
    • Pan, Z.1    Kao, T.2    Horvath, Z.3
  • 25
    • 84947230795 scopus 로고    scopus 로고
    • SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures
    • Howell KB, McMahon JM, Carvill GL, et al. SCN2A encephalopathy: a major cause of epilepsy of infancy with migrating focal seizures. Neurology 2015;85:958–966.
    • (2015) Neurology , vol.85 , pp. 958-966
    • Howell, K.B.1    McMahon, J.M.2    Carvill, G.L.3
  • 26
    • 84925375639 scopus 로고    scopus 로고
    • The phenotypic spectrum of SCN8A encephalopathy
    • 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
  • 27
    • 84955348138 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 2016;13:192–197.
    • (2016) Neurotherapeutics , vol.13 , pp. 192-197
    • Boerma, R.S.1    Braun, K.P.2    van de Broek, M.P.3
  • 28
    • 27944489894 scopus 로고    scopus 로고
    • Low-dose carbamazepine therapy for benign infantile convulsions
    • Matsufuji H, Ichiyama T, Isumi H, et al. Low-dose carbamazepine therapy for benign infantile convulsions. Brain Dev 2005;27:554–557.
    • (2005) Brain Dev , vol.27 , pp. 554-557
    • Matsufuji, H.1    Ichiyama, T.2    Isumi, H.3
  • 29
    • 84871270731 scopus 로고    scopus 로고
    • PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
    • Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79:2109–2114.
    • (2012) Neurology , vol.79 , pp. 2109-2114
    • Marini, C.1    Conti, V.2    Mei, D.3
  • 30
    • 70450207813 scopus 로고    scopus 로고
    • The long-term effects of neonatal seizures
    • vii-viii
    • Holmes GL. The long-term effects of neonatal seizures. Clin Perinatol 2009;36:901–914, vii-viii.
    • (2009) Clin Perinatol , vol.36 , pp. 901-914
    • Holmes, G.L.1
  • 31
    • 80053916006 scopus 로고    scopus 로고
    • Risk factors for epilepsy in children with neonatal encephalopathy
    • Glass HC, Hong KJ, Rogers EE, et al. Risk factors for epilepsy in children with neonatal encephalopathy. Pediatr Res 2011;70:535–540.
    • (2011) Pediatr Res , vol.70 , pp. 535-540
    • Glass, H.C.1    Hong, K.J.2    Rogers, E.E.3
  • 32
    • 0042035601 scopus 로고    scopus 로고
    • Long-term effects of status epilepticus in the immature brain are specific for age and model
    • Cilio MR, Sogawa Y, Cha BH, et al. Long-term effects of status epilepticus in the immature brain are specific for age and model. Epilepsia 2003;44:518–528.
    • (2003) Epilepsia , vol.44 , pp. 518-528
    • Cilio, M.R.1    Sogawa, Y.2    Cha, B.H.3
  • 33
    • 84868302141 scopus 로고    scopus 로고
    • KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2
    • Ishii A, Miyajima T, Kurahashi H, et al. KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. Epilepsy Res 2012;102:122–125.
    • (2012) Epilepsy Res , vol.102 , pp. 122-125
    • Ishii, A.1    Miyajima, T.2    Kurahashi, H.3
  • 34
    • 48449092930 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
    • Neubauer BA, Waldegger S, Heinzinger J, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 2008;71:177–183.
    • (2008) Neurology , vol.71 , pp. 177-183
    • Neubauer, B.A.1    Waldegger, S.2    Heinzinger, J.3
  • 35
    • 84919490236 scopus 로고    scopus 로고
    • A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes
    • Fusco C, Frattini D, Bassi MT. A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes. Eur J Paediatr Neurol 2015;19:102–103.
    • (2015) Eur J Paediatr Neurol , vol.19 , pp. 102-103
    • Fusco, C.1    Frattini, D.2    Bassi, M.T.3
  • 36
    • 0037069448 scopus 로고    scopus 로고
    • Antiepileptic drugs and apoptotic neurodegeneration in the developing brain
    • Bittigau P, Sifringer M, Genz K, et al. Antiepileptic drugs and apoptotic neurodegeneration in the developing brain. Proc Natl Acad Sci U S A 2002;99:15089–15094.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15089-15094
    • Bittigau, P.1    Sifringer, M.2    Genz, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.