U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Subependymal nodular heterotopia

MedGen UID:
781340
•Concept ID:
C3160906
•
Congenital Abnormality; Disease or Syndrome
Synonym: subependymal nodular heterotopia
SNOMED CT: Subependymal nodular heterotopia (699812002)
 
Monarch Initiative: MONDO:0015094
Orphanet: ORPHA101030

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSubependymal nodular heterotopia

Recent clinical studies

Diagnosis

From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Movement Disorder and Epilepsy in Subependymal Nodular Heterotopia.
Lohmror A, Choudhary R
J Assoc Physicians India 2019 Jul;67(7):11-12. PMID: 31559780
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L
Am J Med Genet A 2016 Jan;170A(1):116-29. Epub 2015 Sep 30 doi: 10.1002/ajmg.a.37384. PMID: 26420639
Cervical meningocele associated with subependymal nodular heterotopia.
Lotfi M, Iranpour P, As'adi K
Clin Imaging 2011 May-Jun;35(3):214-6. doi: 10.1016/j.clinimag.2010.06.004. PMID: 21513859
Subependymal nodular heterotopia in patients with encephalocele.
Roelens FA, Barth PG, van der Harten JJ
Eur J Paediatr Neurol 1999;3(2):59-63. doi: 10.1053/ejpn.1999.0183. PMID: 10700540

Prognosis

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L
Am J Med Genet A 2016 Jan;170A(1):116-29. Epub 2015 Sep 30 doi: 10.1002/ajmg.a.37384. PMID: 26420639

Clinical prediction guides

From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.
Sprenger F, de Oliveira Salvador GL, Vinholi G, Bertholdo DB, de Almeida Teixeira BC
Childs Nerv Syst 2022 Jun;38(6):1189-1193. Epub 2021 Sep 29 doi: 10.1007/s00381-021-05366-7. PMID: 34586492
Partial trisomy of 7q: case report and literature review.
Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P
J Child Neurol 2008 May;23(5):572-9. Epub 2007 Dec 3 doi: 10.1177/0883073807309776. PMID: 18056692

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...