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Cerebral developmental disorders.
Lian G, Sheen V. Lian G, et al. Curr Opin Pediatr. 2006 Dec;18(6):614-20. doi: 10.1097/MOP.0b013e328010542d. Curr Opin Pediatr. 2006. PMID: 17099359 Review.
Mutations in genes that are required for neuroblast migration cause type I lissencephaly (smooth brain) and subcortical band heterotopia (smooth brain with a band of neurons beneath the cortex). Mutations in genes that direct migratory neurons to arrest in the cortex lead …
Mutations in genes that are required for neuroblast migration cause type I lissencephaly (smooth brain) and subcortical band heteroto …
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. ...The most commonly reported features were developmental delay (98%), anomalies of the co …
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental del …
Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I).
Güngör S, Yalnizoğlu D, Turanli G, Saatçi I, Erdoğan-Bakar E, Topçu M. Güngör S, et al. Turk J Pediatr. 2007 Apr-Jun;49(2):120-30. Turk J Pediatr. 2007. PMID: 17907510 Review.
Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patients were diagnosed with polymicrogyria (PMG), 23 patients with lissencephaly, 12 patients with schizencephaly, and 12 patients with he …
Routine EEG and MRI were obtained. The patients were between 1 month and 19 years of age (mean: 6.1 +/- 4.4 years). Fifty-four patien …
[Developmental malformations of the cerebral cortex].
Reiss-Zimmermann M, Weber D, Sorge I, Merkenschlager A, Hirsch W. Reiss-Zimmermann M, et al. Rofo. 2010 Jun;182(6):472-8. doi: 10.1055/s-0029-1245258. Epub 2010 Apr 23. Rofo. 2010. PMID: 20419608 Review. German.
Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination proto …
Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organizatio …