Periventricular nodular heterotopia

Definition:

Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along the lateral ventricles.

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]. Erin L Heinzen, et al. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 May 8;14(5):e1007281. [Content Brief]

[3]. Jie Lu, et al. Periventricular heterotopia. Epilepsy Behav. 2005 Sep;7(2):143-9. [Content Brief]

[4]. Loïc Broix, et al. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. Nat Genet. 2016 Nov;48(11):1349-1358. [Content Brief]

[5]. Matthew R Sarkisian, et al. Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex. Trends Neurosci. 2008 Feb;31(2):54-61. [Content Brief]

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

[7]. Valerio Conti, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov;136(Pt 11):3378-94. [Content Brief]

[8]. Xiaoyan Ge, et al. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. NPJ Genom Med. 2016;1:16036. [Content Brief]

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