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Volumn 47, Issue 2, 2008, Pages 71-76

Phenotypic characterisation of 35 Colombian children with an imaging diagnosis of schizencephaly;Caracterización fenotípica de 35 niños colombianos con diagnóstico imaginológico de esquisencefalia

Author keywords

Delayed psychomotor development; Epilepsy; Infantile cerebral palsy; Neuroimaging; Phenotype; Schizencephaly

Indexed keywords

AMNION FLUID; ARTICLE; CHILD; CLINICAL ARTICLE; COLOMBIA; CONGENITAL MALFORMATION; EPILEPSY; FAMILY HISTORY; FEMALE; FRONTAL LOBE; HEMISPHERE; HUMAN; INCIDENCE; MALE; MECONIUM; MEDICAL EXAMINATION; MENTAL DEFICIENCY; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN HYPOXIA; PERINATAL PERIOD; PHENOTYPE; PREMATURE LABOR; PRENATAL PERIOD; PROGNOSIS; PSYCHOMOTOR DEVELOPMENT; RADIOLOGY; RISK ASSESSMENT; SCHIZENCEPHALY; SEIZURE; SMOKING; TREATMENT RESPONSE;

EID: 48249107095     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.4702.2008208     Document Type: Article
Times cited : (6)

References (26)
  • 1
    • 48249137156 scopus 로고    scopus 로고
    • Esquisencefalia: Un trastorno de la migración neuronal.
    • Carrizosa J, Cornejo W, Mejía L, Gómez JC. Esquisencefalia: un trastorno de la migración neuronal. IATREIA 2007; 20: 275-1.
    • (2007) IATREIA , vol.20 , pp. 275-281
    • Carrizosa, J.1    Cornejo, W.2    Mejía, L.3    Gómez, J.C.4
  • 2
    • 0000541397 scopus 로고
    • Schizencephalies: A study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips
    • Yakovlev PI,Wadsworth RC. Schizencephalies: a study of the congenital clefts in the cerebral mantle. I. Clefts with fused lips. J Neuropathol Exp Neurol 1946; 5: 116-30.
    • (1946) J Neuropathol Exp Neurol , vol.5 , pp. 116-130
    • Yakovlev, P.I.1    Wadsworth, R.C.2
  • 3
    • 0342813139 scopus 로고    scopus 로고
    • Schizencephaly: Correlations of clinical and radiologic features
    • Packard AM, Miller VS, Delgado MR. Schizencephaly: correlations of clinical and radiologic features. Neurology 1997; 48: 1427-34.
    • (1997) Neurology , vol.48 , pp. 1427-1434
    • Packard, A.M.1    Miller, V.S.2    Delgado, M.R.3
  • 4
    • 24344437604 scopus 로고    scopus 로고
    • Schizencephaly: Heterogeneous etiologies in a population of 4 million California births
    • Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A 2005; 137: 181-9.
    • (2005) Am J Med Genet A , vol.137 , pp. 181-189
    • Curry, C.J.1    Lammer, E.J.2    Nelson, V.3    Shaw, G.M.4
  • 5
    • 0025744726 scopus 로고
    • Familial schizencephaly
    • Robinson RO. Familial schizencephaly. Dev Med Child Neurol 1991; 33: 1010-14.
    • (1991) Dev Med Child Neurol , vol.33 , pp. 1010-1014
    • Robinson, R.O.1
  • 6
    • 0026577491 scopus 로고
    • Schizencephaly: Case report of familial incidence
    • Hosley MA, Abroms IF, Ragland RL. Schizencephaly: case report of familial incidence. Pediatr Neurol 1992; 8: 148-50.
    • (1992) Pediatr Neurol , vol.8 , pp. 148-150
    • Hosley, M.A.1    Abroms, I.F.2    Ragland, R.L.3
  • 7
    • 0030065606 scopus 로고    scopus 로고
    • Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly
    • Brunelli S, Faiella A, Capra V, Nigro V, Simeone A, Cama A, et al. Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996; 12: 94-6.
    • (1996) Nat Genet , vol.12 , pp. 94-96
    • Brunelli, S.1    Faiella, A.2    Capra, V.3    Nigro, V.4    Simeone, A.5    Cama, A.6
  • 8
    • 0030707886 scopus 로고    scopus 로고
    • A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2
    • Brunelli S, Faiella A, Granata T, D'Incerti L, Cardini R, Lenti C, et al. A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Eur J Hum Genet 1997; 5: 186-90.
    • (1997) Eur J Hum Genet , vol.5 , pp. 186-190
    • Brunelli, S.1    Faiella, A.2    Granata, T.3    D'Incerti, L.4    Cardini, R.5    Lenti, C.6
  • 10
    • 34249872180 scopus 로고    scopus 로고
    • Comprehensive EMX2 genotyping of a large schizencephaly case series
    • Tietjen I, Bodell A, Apse K, Mendonza A, Chang B, Shaw G, et al. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet 2007; 143A: 1313-16.
    • (2007) Am J Med Genet , vol.143 A , pp. 1313-1316
    • Tietjen, I.1    Bodell, A.2    Apse, K.3    Mendonza, A.4    Chang, B.5    Shaw, G.6
  • 11
    • 0029852607 scopus 로고    scopus 로고
    • Coexistence of schizencephaly and intracranial arteriovenous malformation in an infant
    • Hung PC, Wang HS, Yeh YS, Lui TN, Lee ST. Coexistence of schizencephaly and intracranial arteriovenous malformation in an infant. AJNR Am J Neuroradiol 1996; 17: 1921-22.
    • (1996) AJNR Am J Neuroradiol , vol.17 , pp. 1921-1922
    • Hung, P.C.1    Wang, H.S.2    Yeh, Y.S.3    Lui, T.N.4    Lee, S.T.5
  • 13
    • 0028074990 scopus 로고
    • Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report
    • Landrieu P, Lacroix C. Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report. Clin Neurophatol 1994; 13: 192-6.
    • (1994) Clin Neurophatol , vol.13 , pp. 192-196
    • Landrieu, P.1    Lacroix, C.2
  • 14
    • 0034676578 scopus 로고    scopus 로고
    • Esquisencefalia acompañada de porencefalia en una niña con infección congénita por citomegalovirus.
    • Tomás VM, García TP, García CA, Torregrosa PP, Marinez SP. Esquisencefalia acompañada de porencefalia en una niña con infección congénita por citomegalovirus. Rev Neurol 2000; 31: 952-5.
    • (2000) Rev Neurol , vol.31 , pp. 952-955
    • Tomás, V.M.1    García, T.P.2    García, C.A.3    Torregrosa, P.P.4    Marinez, S.P.5
  • 15
    • 0031813276 scopus 로고    scopus 로고
    • Schizencephaly and congenital cytomegalovirus infection
    • Sener RN. Schizencephaly and congenital cytomegalovirus infection. J Neuroradiol 1998; 25:151-2.
    • (1998) J Neuroradiol , vol.25 , pp. 151-152
    • Sener, R.N.1
  • 17
    • 34247628107 scopus 로고    scopus 로고
    • Schizencephaly: Clinical and radiological presentation of pediatric patients
    • Kopyta I, Jamroz E, Marszal E, Kluczewska E. Schizencephaly: clinical and radiological presentation of pediatric patients. Wiad Lek 2006; 59: 471-6.
    • (2006) Wiad Lek , vol.59 , pp. 471-476
    • Kopyta, I.1    Jamroz, E.2    Marszal, E.3    Kluczewska, E.4
  • 18
  • 19
    • 0026563229 scopus 로고
    • Schizencephaly: Correlation of clinical findings with MR characteristics
    • Barkovich AJ, Kjos BO. Schizencephaly: correlation of clinical findings with MR characteristics. AJNR Am J Neuroradiol 1992; 13: 85-94.
    • (1992) AJNR Am J Neuroradiol , vol.13 , pp. 85-94
    • Barkovich, A.J.1    Kjos, B.O.2
  • 20
    • 0027312389 scopus 로고
    • Comprehensive evaluation of left hemisphere type I schizencephaly
    • Brown MC, Levin BE, Ramsay RE, Landy HJ. Comprehensive evaluation of left hemisphere type I schizencephaly. Arch Neurol 1993; 50: 667-9.
    • (1993) Arch Neurol , vol.50 , pp. 667-669
    • Brown, M.C.1    Levin, B.E.2    Ramsay, R.E.3    Landy, H.J.4
  • 22
    • 0033586952 scopus 로고    scopus 로고
    • Patients with refractory seizures
    • Devinsky O. Patients with refractory seizures. N Engl J Med 1999; 340: 1565-70.
    • (1999) N Engl J Med , vol.340 , pp. 1565-1570
    • Devinsky, O.1
  • 23
    • 0041320926 scopus 로고    scopus 로고
    • ¿Qué es la epilepsia refractaria?
    • Carrisoza J, Cornejo W. ¿Qué es la epilepsia refractaria? IATREIA 2003; 16: 163-7.
    • (2003) IATREIA , vol.16 , pp. 163-167
    • Carrisoza, J.1    Cornejo, W.2
  • 25
    • 33750103087 scopus 로고    scopus 로고
    • Piñol-Ripoll G, Mauri-Llerda JA, Rumià J, Carreño M, De la Puerta González-Miró I, Mostacero-Miguel E. Alteraciones de la migración neuronal: una causa de epilepsia farmacorresistente curable. Rev Neurol 2006; 43: 20-4.
    • Piñol-Ripoll G, Mauri-Llerda JA, Rumià J, Carreño M, De la Puerta González-Miró I, Mostacero-Miguel E. Alteraciones de la migración neuronal: una causa de epilepsia farmacorresistente curable. Rev Neurol 2006; 43: 20-4.
  • 26
    • 35348829922 scopus 로고    scopus 로고
    • Control de la epilepsia en niños y adolescentes con parálisis cerebral con respecto a la etiología y la lesión cerebral de base
    • Rolón-Lacarriere OG, Hernández-Cruz H, Tableros- Alcántara CM, Pérez-Moreno JC. Control de la epilepsia en niños y adolescentes con parálisis cerebral con respecto a la etiología y la lesión cerebral de base. Rev Neurol 2006; 43: 526-30.
    • (2006) Rev Neurol , vol.43 , pp. 526-530
    • Rolón-Lacarriere, O.G.1    Hernández-Cruz, H.2    Tableros- Alcántara, C.M.3    Pérez-Moreno, J.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.