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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). ...The presence of brain perfusion …
In this study, technetium-99 ((99)Tc)-hexamethylpropyleneamine-oxine single-photon emission computed tomography (SPECT) was performed on 13 …
Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
Michels S, Foss K, Park K, Golden-Grant K, Saneto R, Lopez J, Mirzaa GM. Michels S, et al. Am J Med Genet A. 2017 Dec;173(12):3127-3131. doi: 10.1002/ajmg.a.38496. Epub 2017 Oct 19. Am J Med Genet A. 2017. PMID: 29048727 Free PMC article.
While the clinical and molecular diagnosis of severe cortical malformations, such as classic lissencephaly, is often straightforward, the diagnosis of more subtle and complex types of cortical malformations, such as pachygyria and polymicrogyria (PMG), can be more c …
While the clinical and molecular diagnosis of severe cortical malformations, such as classic lissencephaly, is often straightf …