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Year Number of Results
1983 1
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1994 3
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1998 2
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2000 1
2001 3
2002 2
2003 3
2004 6
2005 1
2006 2
2007 1
2008 2
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2010 3
2011 2
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57 results

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Page 1
Neurological outcome in WDR62 primary microcephaly.
Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium; El Ghouzzi V, Auvin S, Verloes A, Passemard S. Ruaud L, et al. Dev Med Child Neurol. 2022 Apr;64(4):509-517. doi: 10.1111/dmcn.15060. Epub 2021 Sep 25. Dev Med Child Neurol. 2022. PMID: 35726608 Free article.
RESULTS: Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 out of 15 patients. ...The socialization score was higher (mean 47.14, SD 12.39). We found a significant difference between scores …
RESULTS: Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 …
Epilepsy in paediatric patients with schizencephaly.
Kopyta I, Skrzypek M, Raczkiewicz D, Bojar I, Sarecka-Hujar B. Kopyta I, et al. Ann Agric Environ Med. 2020 Jun 19;27(2):279-283. doi: 10.26444/aaem/122796. Epub 2020 Jun 2. Ann Agric Environ Med. 2020. PMID: 32588606 Free article.
RESULTS: Epilepsy was the most frequent in bilateral type II schizencephaly (p=0.033). In logistic regression analysis, the presence of bilateral open schizencephaly significantly increased the risk of seizures (OR=11.67; 95%CI 2.44-55.83; p=0.002). Drug-resistant e …
RESULTS: Epilepsy was the most frequent in bilateral type II schizencephaly (p=0.033). In logistic regression analysis, the presence …
Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.
Kopyta I, Jamroz E, Kluczewska E, Sarecka-Hujar B. Kopyta I, et al. J Child Neurol. 2014 Apr;29(4):442-9. doi: 10.1177/0883073813478660. Epub 2013 Mar 14. J Child Neurol. 2014. PMID: 23503883
Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). ...In most of the …
Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation …
Schizencephaly: A Review of 734 Patients.
Braga VL, da Costa MDS, Riera R, Dos Santos Rocha LP, de Oliveira Santos BF, Matsumura Hondo TT, de Oliveira Chagas M, Cavalheiro S. Braga VL, et al. Pediatr Neurol. 2018 Oct;87:23-29. doi: 10.1016/j.pediatrneurol.2018.08.001. Epub 2018 Aug 8. Pediatr Neurol. 2018. PMID: 30501885 Review.
BACKGROUND: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. ...CONCLUSIONS: We describe novel findings with practical implications for predicting neurocognitive outcomes in patients with schizencephal …
BACKGROUND: Schizencephaly is a rare congenital cerebral malformation associated with serious neurological manifestations. ...CONCLUS …
Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
Romaniello R, Arrigoni F, Bassi MT, Borgatti R. Romaniello R, et al. Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Brain Dev. 2015. PMID: 25008804 Review.
In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips sch …
In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical d …
Schizencephaly: correlation between clinical and neuroimaging features.
Liang JS, Lee WT, Peng SS, Yu TW, Shen YZ. Liang JS, et al. Acta Paediatr Taiwan. 2002 Jul-Aug;43(4):208-13. Acta Paediatr Taiwan. 2002. PMID: 12238909
Schizencephaly is an uncommon congenital brain malformation. We report our experience of 13 patients with schizencephaly and evaluate the clinical, neuroradiologic, electroencephalographic (EEG), and nosological features. ...We conclude that children with schizen …
Schizencephaly is an uncommon congenital brain malformation. We report our experience of 13 patients with schizencephaly and e …
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). ...CONCLUSIONS: Prenatal observation of ventriculome …
RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly ( …
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
These included 6 cases with asymmetrical or unilateral schizencephaly and/or polymicrogyria and 3 cases with bilateral schizencephaly. ...We did not observe microbleeds or microcalcifications in any of our cases, hence we do not believe that they represent a …
These included 6 cases with asymmetrical or unilateral schizencephaly and/or polymicrogyria and 3 cases with bilateral schizenceph …
Schizencephaly in children: A single medical center retrospective study.
Hung PC, Wang HS, Chou ML, Lin KL, Hsieh MY, Chou IJ, Wong AM. Hung PC, et al. Pediatr Neonatol. 2018 Dec;59(6):573-580. doi: 10.1016/j.pedneo.2018.01.009. Epub 2018 Jan 6. Pediatr Neonatol. 2018. PMID: 29371079 Free article.
The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. ...Determining the type, size, and extent of schizencephaly is useful to plan management and predict the prognosis....
The MRI findings of schizencephaly were recorded along with the presence of associated cerebral disorders. ...Determining the type, s …
Schizencephaly: a study of 16 patients.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J, Quiñones D. Pascual-Castroviejo I, et al. Neurologia. 2012 Oct;27(8):491-9. doi: 10.1016/j.nrl.2011.06.005. Epub 2011 Sep 3. Neurologia. 2012. PMID: 21890242 Free article. English, Spanish.
OBJECTIVE: To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages. ...Most patients were referred for evaluation because of psychomotor delay, motor disabilities and/or seizures. RESULTS: Five patients had …
OBJECTIVE: To present 16 patients with schizencephaly and neurological involvement, and analyse their characteristics and neuroimages …
57 results