KEGG DISEASE: Periventricular nodular heterotopia

DISEASE: Periventricular nodular heterotopia

Entry

H00270                      Disease

Name

Periventricular nodular heterotopia

Supergrp

Neuronal migration disorder [DS:H01835]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H00270  Periventricular nodular heterotopia

Pathway

hsa04144

Endocytosis

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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

» Japanese version

All links

Disease (6)   
   OMIM (6)   
Gene (12)   
   KEGG ORTHOLOGY (6)   
   KEGG GENES (6)   
Literature (8)   
   PubMed (8)   
All databases (26)   

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