Lissencephaly

Definition:

Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia.

References:

[1]. Alberto Spalice, et al. Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. Acta Paediatr. 2009 Mar;98(3):421-33. [Content Brief]

[2]. Daniella Magen, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. Hum Genet. 2015 Mar;134(3):305-14. [Content Brief]

[3]. Farid Radmanesh, et al. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 7;92(3):468-74. [Content Brief]

[4]. Geraldine Kerjan, et al. Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. Trends Genet. 2007 Dec;23(12):623-30. [Content Brief]

[5]. Julie Jerber, et al. Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. [Content Brief]

[6]. Karine Poirier, et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat. 2007 Nov;28(11):1055-64. [Content Brief]

[7]. Ketu Mishra-Gorur, et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17;84(6):1226-39. [Content Brief]

[8]. Kunio Kitamura, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov;32(3):359-69. [Content Brief]

[9]. Mehmet Bakircioglu, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 2011 May 13;88(5):523-35. [Content Brief]

[10]. Meng-Han Tsai, et al. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 Apr 22;106(2):237-245.e8. [Content Brief]

[11]. Pierre-Louis Leger, et al. The location of DCX mutations predicts malformation severity in X-linked lissencephaly. Neurogenetics. 2008 Oct;9(4):277-85. [Content Brief]

[12]. Renzo Guerrini, et al. Genetic malformations of cortical development. Exp Brain Res. 2006 Aug;173(2):322-33. [Content Brief]

[13]. S E Hong, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep;26(1):93-6. [Content Brief]

[14]. Weimin Bi, et al. Increased LIS1 expression affects human and mouse brain development. Nat Genet. 2009 Feb;41(2):168-77. [Content Brief]

[15]. William B Dobyns, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 Dec 6;103(6):1009-1021. [Content Brief]

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