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2023 3
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Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.
Liu J, Hu J, Duan Y, Qin R, Guo C, Zhou H, Liu H, Liu C. Liu J, et al. Mol Genet Genomic Med. 2023 Jul;11(7):e2169. doi: 10.1002/mgg3.2169. Epub 2023 Mar 19. Mol Genet Genomic Med. 2023. PMID: 36934385 Free PMC article. Review.
BACKGROUND: Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. ...
BACKGROUND: Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized b …
X-linked neuronal migration disorders: Gender differences and insights for genetic screening.
Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V. Edey J, et al. Int J Dev Neurosci. 2023 Nov;83(7):581-599. doi: 10.1002/jdn.10290. Epub 2023 Aug 13. Int J Dev Neurosci. 2023. PMID: 37574439 Review.
In this review, we aim to highlight X-linked NMDs including lissencephaly, periventricular nodular heterotopia and polymicrogyria because of their mostly familial inheritance pattern. ...
In this review, we aim to highlight X-linked NMDs including lissencephaly, periventricular nodular heterotopia and poly …
Accuracy of robot-assisted stereotactic MRI-guided laser ablation in children with epilepsy.
Lee KS, Seunarine KK, Barnes N, Tahir MZ, Varadkar SM, Tisdall MM. Lee KS, et al. J Neurosurg Pediatr. 2023 May 19;32(2):214-222. doi: 10.3171/2023.4.PEDS2318. Print 2023 Aug 1. J Neurosurg Pediatr. 2023. PMID: 37209074 Review.
Twenty (71.4%) children had undergone ablation for hypothalamic hamartoma, 7 children (25.0%) for presumed insular focal cortical dysplasia, and 1 patient (3.6%) for periventricular nodular heterotopia. Nineteen children were male (67.9.%) and 9 were f …
Twenty (71.4%) children had undergone ablation for hypothalamic hamartoma, 7 children (25.0%) for presumed insular focal cortical dys …
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Guerrini R, Carrozzo R. Guerrini R, et al. Seizure. 2001 Oct;10(7):532-43; quiz 544-7. doi: 10.1053/seiz.2001.0650. Seizure. 2001. PMID: 11749114 Free article. Review.
Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. ...Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and ty …
Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by …
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW. Peddibhotla S, et al. Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736736 Free PMC article. Review.
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that are impor …
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydroce …