神経細胞移動異常症 [DS:H01835]

Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P

Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.

Acta Paediatr 98:421-33 (2009)
DOI:10.1111/j.1651-2227.2008.01160.x

Sarkisian MR, Bartley CM, Rakic P

Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex.

Trends Neurosci 31:54-61 (2008)
DOI:10.1016/j.tins.2007.11.009

Guerrini R, Marini C

Genetic malformations of cortical development.

Exp Brain Res 173:322-33 (2006)
DOI:10.1007/s00221-006-0501-z

Lu J, Sheen V

Periventricular heterotopia.

Epilepsy Behav 7:143-9 (2005)
DOI:10.1016/j.yebeh.2005.05.001

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Brain 136:3378-94 (2013)
DOI:10.1093/brain/awt249

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A, Moise M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischke P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Nat Genet 48:1349-1358 (2016)
DOI:10.1038/ng.3676

Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.

NPJ Genom Med 1:16036 (2016)
DOI:10.1038/npjgenmed.2016.36

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

PLoS Genet 14:e1007281 (2018)
DOI:10.1371/journal.pgen.1007281