메뉴 건너뛰기




Volumn 24, Issue 2, 2011, Pages 108-113

Genetic etiologies of epileptic encephalopathies;Genetische Ursachen epileptischer Enzephalopathien

Author keywords

Dravet syndrome; Epileptic encephalopathy; Glucose transporter type 1; Vitamin B6; West syndrome

Indexed keywords

ARTICLE; GENE; GENETIC SCREENING; HEREDITY; LENNOX GASTAUT SYNDROME;

EID: 79958017625     PISSN: 16176782     EISSN: 16100646     Source Type: Journal    
DOI: 10.1007/s10309-011-0169-7     Document Type: Article
Times cited : (8)

References (44)
  • 1
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
    • DOI 10.1038/13810
    • Amir RE, Van Den Veyver IB, Wan M et al (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188 (Pubitemid 29455390)
    • (1999) Nature Genetics , vol.23 , Issue.2 , pp. 185-188
    • Amir, R.E.1    Van Den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 2
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F, Hayek G, Rondinella D et al (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83:89-93
    • (2008) Am J Hum Genet , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 3
    • 78650010093 scopus 로고    scopus 로고
    • The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
    • Bok LA, Maurits NM, Willemsen MA et al (2010) The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia 51:2406-2411
    • (2010) Epilepsia , vol.51 , pp. 2406-2411
    • Bok, L.A.1    Maurits, N.M.2    Ma, W.3
  • 6
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI et al (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325:703-709
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3
  • 7
    • 0038059165 scopus 로고    scopus 로고
    • Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2
    • DOI 10.1016/S0920-1211(03)00037-8
    • Dedek K, Fusco L, Teloy N et al (2003) Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. Epilepsy Res 54:21-27 (Pubitemid 36556194)
    • (2003) Epilepsy Research , vol.54 , Issue.1 , pp. 21-27
    • Dedek, K.1    Fusco, L.2    Teloy, N.3    Steinlein, O.K.4
  • 8
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
    • Depienne C, Bouteiller D, Keren B et al (2009) Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 5:e1000381
    • (2009) PLoS Genet , vol.5
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 9
    • 77957945296 scopus 로고    scopus 로고
    • Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    • Deprez L, Weckhuysen S, Holmgren P et al (2010) Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 75:1159-1165
    • (2010) Neurology , vol.75 , pp. 1159-1165
    • Deprez, L.1    Weckhuysen, S.2    Holmgren, P.3
  • 11
    • 16544389829 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infancy: Dravet syndrome
    • Dravet C, Bureau M, Oguni H et al (2005) Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 95:71-102
    • (2005) Adv Neurol , vol.95 , pp. 71-102
    • Dravet, C.1    Bureau, M.2    Oguni, H.3
  • 12
    • 54049089062 scopus 로고    scopus 로고
    • CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
    • Elia M, Falco M, Ferri R et al (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999
    • (2008) Neurology , vol.71 , pp. 997-999
    • Elia, M.1    Falco, M.2    Ferri, R.3
  • 14
    • 65449119303 scopus 로고    scopus 로고
    • Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    • Gallagher RC, Van Hove JL, Scharer G et al (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65:550-556
    • (2009) Ann Neurol , vol.65 , pp. 550-556
    • Gallagher, R.C.1    Van Hove, J.L.2    Scharer, G.3
  • 17
    • 0015149375 scopus 로고
    • A new familial form of convulsive disorder and mental retardation limited to females
    • Juberg RC, Hellman CD (1971) A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr 79:726-732
    • (1971) J Pediatr , vol.79 , pp. 726-732
    • Juberg, R.C.1    Hellman, C.D.2
  • 21
    • 77957686537 scopus 로고    scopus 로고
    • Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
    • Kurian MA, Meyer E, Vassallo G et al (2010) Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 133:2964-2970
    • (2010) Brain , vol.133 , pp. 2964-2970
    • Ma, K.1    Meyer, E.2    Vassallo, G.3
  • 22
    • 78049523940 scopus 로고    scopus 로고
    • SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
    • Liao Y, Anttonen AK, Liukkonen E et al (2010) SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75:1454-1458
    • (2010) Neurology , vol.75 , pp. 1454-1458
    • Liao, Y.1    Anttonen, A.K.2    Liukkonen, E.3
  • 24
    • 77955881836 scopus 로고    scopus 로고
    • Protocadherin 19 mutations in girls with infantile-onset epilepsy
    • Marini C, Mei D, Parmeggiani L et al (2010) Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 75:646-653
    • (2010) Neurology , vol.75 , pp. 646-653
    • Marini, C.1    Mei, D.2    Parmeggiani, L.3
  • 25
    • 70349661695 scopus 로고    scopus 로고
    • Child neurology: Dravet syndrome: When to suspect the diagnosis
    • Millichap JJ, Koh S, Laux LC et al (2009) Child neurology: Dravet syndrome: when to suspect the diagnosis. Neurology 73:e59-e62
    • (2009) Neurology , vol.73
    • Millichap, J.J.1    Koh, S.2    Laux, L.C.3
  • 26
    • 77954377790 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
    • Mills PB, Footitt EJ, Mills KA et al (2010) Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 133:2148-2159
    • (2010) Brain , vol.133 , pp. 2148-2159
    • Mills, P.B.1    Footitt, E.J.2    Mills, K.A.3
  • 29
    • 70349997517 scopus 로고    scopus 로고
    • Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
    • Molinari F, Kaminska A, Fiermonte G et al (2009) Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet 76:188-194
    • (2009) Clin Genet , vol.76 , pp. 188-194
    • Molinari, F.1    Kaminska, A.2    Fiermonte, G.3
  • 31
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • Mullen SA, Suls A, De Jonghe P et al (2010) Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 75:432-440
    • (2010) Neurology , vol.75 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3
  • 32
    • 70349686767 scopus 로고    scopus 로고
    • De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies
    • Ogiwara I, Ito K, Sawaishi Y et al (2009) De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology 73:1046-1053
    • (2009) Neurology , vol.73 , pp. 1046-1053
    • Ogiwara, I.1    Ito, K.2    Sawaishi, Y.3
  • 33
    • 1642498344 scopus 로고    scopus 로고
    • Epileptic Encephalopathies in Early Infancy with Suppression-Burst
    • DOI 10.1097/00004691-200311000-00003
    • Ohtahara S, Yamatogi Y (2003) Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol 20:398-407 (Pubitemid 38133968)
    • (2003) Journal of Clinical Neurophysiology , vol.20 , Issue.6 , pp. 398-407
    • Ohtahara, S.1    Yamatogi, Y.2
  • 34
    • 69249139018 scopus 로고    scopus 로고
    • Vitamin B6 dependent seizures
    • Plecko B, Stockler S (2009) Vitamin B6 dependent seizures. Can J Neurol Sci 36(Suppl 2):S73-77
    • (2009) Can J Neurol Sci , vol.36 , Issue.SUPPL. 2
    • Plecko, B.1    Stockler, S.2
  • 36
    • 77953120288 scopus 로고    scopus 로고
    • Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay
    • Saitsu H, Tohyama J, Kumada T et al (2008) Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet 86:881-891
    • (2008) Am J Hum Genet , vol.86 , pp. 881-891
    • Saitsu, H.1    Tohyama, J.2    Kumada, T.3
  • 39
    • 77649188409 scopus 로고    scopus 로고
    • Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
    • Shen J, Gilmore EC, Marshall CA et al (2010) Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 42:245-249
    • (2010) Nat Genet , vol.42 , pp. 245-249
    • Shen, J.1    Gilmore, E.C.2    Marshall, C.A.3
  • 40
    • 77955082451 scopus 로고    scopus 로고
    • ARX spectrum disorders: Making inroads into the molecular pathology
    • Shoubridge C, Fullston T, Gecz J (2010) ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat 31:889-900
    • (2010) Hum Mutat , vol.31 , pp. 889-900
    • Shoubridge, C.1    Fullston, T.2    Gecz, J.3
  • 42
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • Suls A, Mullen SA, Weber YG et al (2009) Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 66:415-419
    • (2009) Ann Neurol , vol.66 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3
  • 44
    • 33746356840 scopus 로고    scopus 로고
    • Rett syndrome: New clinical and molecular insights
    • DOI 10.1038/sj.ejhg.5201580, PII 5201580
    • Williamson SL, Christodoulou J (2006) Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 14:896-903 (Pubitemid 44111626)
    • (2006) European Journal of Human Genetics , vol.14 , Issue.8 , pp. 896-903
    • Williamson, S.L.1    Christodoulou, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.