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Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.
Leventer RJ. Leventer RJ. J Child Neurol. 2005 Apr;20(4):307-12. doi: 10.1177/08830738050200040701. J Child Neurol. 2005. PMID: 15921231 Review.
Lissencephaly and subcortical band heterotopia are closely related cortical malformations and are true disorders of neuronal migration. The genetic basis of approximately 70% of classic lissencephaly and 80% of typical subcortical band heterotopia is known. ...There …
Lissencephaly and subcortical band heterotopia are closely related cortical malformations and are true disorders of neuronal migration. The …
Human cytomegalovirus infection is associated with increased expression of the lissencephaly gene PAFAH1B1 encoding LIS1 in neural stem cells and congenitally infected brains.
Rolland M, Martin H, Bergamelli M, Sellier Y, Bessières B, Aziza J, Benchoua A, Leruez-Ville M, Gonzalez-Dunia D, Chavanas S. Rolland M, et al. J Pathol. 2021 May;254(1):92-102. doi: 10.1002/path.5640. Epub 2021 Mar 24. J Pathol. 2021. PMID: 33565082 Free article.
Moreover, we observed increased immunostaining for LIS1 in brains of congenitally infected fetuses, but not in control samples, highlighting the clinical relevance of our findings. ...Notably, mutations resulting in PAFAH1B1 haploinsufficiency cause classic lisse …
Moreover, we observed increased immunostaining for LIS1 in brains of congenitally infected fetuses, but not in control samples, highl …
99Tc-HmPAO SPECT in 13 patients with classic lissencephaly.
Yilmaz Y, Ozmen M, Adalet I, Calişkan M, Unal S, Aydinli N, Minareci O. Yilmaz Y, et al. Pediatr Neurol. 2000 Apr;22(4):292-7. doi: 10.1016/s0887-8994(00)00121-1. Pediatr Neurol. 2000. PMID: 10788746
In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 children with classic lissencephaly (nine with epileptic seizures, four without seizures). Focal or multifocal hypoperfusions …
In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 …