| H00270 | |
| H番号 | H00270 |
| 名称 | 脳室周囲結節性異所性灰白質 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA05.5Y ICD-10: Q04.8 MeSH: D054091 OMIM: 300049 608097 615544 617201 618185 618918 |
| 文献 | PMID:19120042 著者 Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P タイトル Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. 雑誌 Acta Paediatr 98:421-33 (2009) DOI:10.1111/j.1651-2227.2008.01160.x PMID:18201775 著者 Sarkisian MR, Bartley CM, Rakic P タイトル Trouble making the first move: interpreting arrested neuronal migration in the cerebral cortex. 雑誌 Trends Neurosci 31:54-61 (2008) DOI:10.1016/j.tins.2007.11.009 PMID:16724181 著者 Guerrini R, Marini C タイトル Genetic malformations of cortical development. 雑誌 Exp Brain Res 173:322-33 (2006) DOI:10.1007/s00221-006-0501-z PMID:15996530 (PVNH1_2) 著者 Lu J, Sheen V タイトル Periventricular heterotopia. 雑誌 Epilepsy Behav 7:143-9 (2005) DOI:10.1016/j.yebeh.2005.05.001 PMID:24056535 (PVNH6) 著者 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 タイトル Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. 雑誌 Brain 136:3378-94 (2013) DOI:10.1093/brain/awt249 PMID:27694961 (PVNH7) 著者 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 タイトル Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia. 雑誌 Nat Genet 48:1349-1358 (2016) DOI:10.1038/ng.3676 PMID:28868155 (PVNH8) 著者 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 タイトル Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. 雑誌 NPJ Genom Med 1:16036 (2016) DOI:10.1038/npjgenmed.2016.36 PMID:29738522 (PVNH9) 著者 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 タイトル De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. 雑誌 PLoS Genet 14:e1007281 (2018) DOI:10.1371/journal.pgen.1007281 |