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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL. Khalaf-Nazzal R, et al. Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283405 Free PMC article.
The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more severe than anterior gradient similar to PAFAH1B1(LIS1)-related lissencephaly and severe hypoplasia or absence of the corpus callosum; dysplasi …
The neuroradiological phenotype comprises a highly recognizable combination of classic lissencephaly with a posterior more sev …
Lissencephalic syndromes: brain and beyond.
Pavone L, Corsello G, Pavone P, Iannetti P. Pavone L, et al. Front Biosci (Schol Ed). 2010 Jan 1;2(1):85-95. doi: 10.2741/s47. Front Biosci (Schol Ed). 2010. PMID: 20036930 Free article. Review.
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pachygyria and it is the most severe form of malformations derived from abnormal neuronal migration. ...It encompasses a group of syndromes whic …
Lissencephaly has been long maintained a malformation involving only the brain. Classic lissencephaly includes agyria and pach …
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.
Herbst SM, Proepper CR, Geis T, Borggraefe I, Hahn A, Debus O, Haeussler M, von Gersdorff G, Kurlemann G, Ensslen M, Beaud N, Budde J, Gilbert M, Heiming R, Morgner R, Philippi H, Ross S, Strobl-Wildemann G, Muelleder K, Vosschulte P, Morris-Rosendahl DJ, Schuierer G, Hehr U. Herbst SM, et al. Brain Dev. 2016 Apr;38(4):399-406. doi: 10.1016/j.braindev.2015.10.001. Epub 2015 Oct 19. Brain Dev. 2016. PMID: 26494205
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy within the first year. AIM: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associa …
BACKGROUND: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug …
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
Torres FR, Montenegro MA, Marques-De-Faria AP, Guerreiro MM, Cendes F, Lopes-Cendes I. Torres FR, et al. Neurology. 2004 Mar 9;62(5):799-802. doi: 10.1212/01.wnl.0000113725.46254.fd. Neurology. 2004. PMID: 15007136
The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) and subcortical band heterotopia (SBH). ...
The authors describe clinical, neuroimaging and molecular findings in a group of 15 patients with classic lissencephaly (LIS) …