| H00270 | |
| H number | H00270 |
| Name | Periventricular nodular heterotopia |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (PVNH1) FLNA [HSA:2316] [KO:K04437] (PVNH2) ARFGEF2 [HSA:10564] [KO:K18442] (PVNH6) ERMARD [HSA:55780] [KO:K25139] (PVNH7) NEDD4L [HSA:23327] [KO:K13305] (PVNH8) ARF1 [HSA:375] [KO:K07937] (PVNH9) MAP1B [HSA:4131] [KO:K10429] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA05.5Y ICD-10: Q04.8 MeSH: D054091 OMIM: 300049 608097 615544 617201 618185 618918 |
| Reference | PMID:19120042 AUTHORS Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P TITLE Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. JOURNAL Acta Paediatr 98:421-33 (2009) DOI:10.1111/j.1651-2227.2008.01160.x PMID:18201775 AUTHORS Sarkisian MR, Bartley CM, Rakic P TITLE Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex. JOURNAL Trends Neurosci 31:54-61 (2008) DOI:10.1016/j.tins.2007.11.009 PMID:16724181 AUTHORS Guerrini R, Marini C TITLE Genetic malformations of cortical development. JOURNAL Exp Brain Res 173:322-33 (2006) DOI:10.1007/s00221-006-0501-z PMID:15996530 (PVNH1_2) AUTHORS Lu J, Sheen V TITLE Periventricular heterotopia. JOURNAL Epilepsy Behav 7:143-9 (2005) DOI:10.1016/j.yebeh.2005.05.001 PMID:24056535 (PVNH6) AUTHORS 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 TITLE Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. JOURNAL Brain 136:3378-94 (2013) DOI:10.1093/brain/awt249 PMID:27694961 (PVNH7) AUTHORS 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 TITLE Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. JOURNAL Nat Genet 48:1349-1358 (2016) DOI:10.1038/ng.3676 PMID:28868155 (PVNH8) AUTHORS 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 TITLE Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. JOURNAL NPJ Genom Med 1:16036 (2016) DOI:10.1038/npjgenmed.2016.36 PMID:29738522 (PVNH9) AUTHORS 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 TITLE De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. JOURNAL PLoS Genet 14:e1007281 (2018) DOI:10.1371/journal.pgen.1007281 |