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Nodular neuronal heterotopia

MedGen UID:
1842941
Concept ID:
C5680679
Congenital Abnormality
Synonyms: genetic nodular heterotopia; hereditary nodular heterotopia; nodular heterotopia; nodular neuronal heterotopia
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Monarch Initiative: MONDO:0016292
Orphanet: ORPHA2149

Definition

A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. [from ORDO]

Professional guidelines

PubMed

Edey J, Soleimani-Nouri P, Dawson-Kavanagh A, Imran Azeem MS, Episkopou V
Int J Dev Neurosci 2023 Nov;83(7):581-599. Epub 2023 Aug 13 doi: 10.1002/jdn.10290. PMID: 37574439

Recent clinical studies

Etiology

Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y, Melanson D, Ethier R
Can J Neurol Sci 1991 Nov;18(4 Suppl):580-7. doi: 10.1017/s0317167100032753. PMID: 1777874

Diagnosis

Tanner LM, Tynninen O, Piippo K, Puhakka AM
Prenat Diagn 2023 Jun;43(6):730-733. Epub 2023 May 16 doi: 10.1002/pd.6349. PMID: 37160702
Hannan AJ, Servotte S, Katsnelson A, Sisodiya S, Blakemore C, Squier M, Molnár Z
Brain 1999 Feb;122 ( Pt 2):219-38. doi: 10.1093/brain/122.2.219. PMID: 10071051
Palmini A, Andermann F, Olivier A, Tampieri D, Robitaille Y, Melanson D, Ethier R
Can J Neurol Sci 1991 Nov;18(4 Suppl):580-7. doi: 10.1017/s0317167100032753. PMID: 1777874

Prognosis

Hannan AJ, Servotte S, Katsnelson A, Sisodiya S, Blakemore C, Squier M, Molnár Z
Brain 1999 Feb;122 ( Pt 2):219-38. doi: 10.1093/brain/122.2.219. PMID: 10071051

Clinical prediction guides

Tanner LM, Tynninen O, Piippo K, Puhakka AM
Prenat Diagn 2023 Jun;43(6):730-733. Epub 2023 May 16 doi: 10.1002/pd.6349. PMID: 37160702
Hannan AJ, Servotte S, Katsnelson A, Sisodiya S, Blakemore C, Squier M, Molnár Z
Brain 1999 Feb;122 ( Pt 2):219-38. doi: 10.1093/brain/122.2.219. PMID: 10071051

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