Results 31 to 40 of about 2,255 (147)
Variants in LAMC3 Causes Occipital Cortical Malformation
Frontiers in Genetics, 2021 Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures.
Xiaohang Qian +12 more
doaj +1 more source
Polymicrogyria Clinical/Imaging Heterogeneity
Pediatric Neurology Briefs, 2010 Researchers at the Royal Children's Hospital. Melbourne, Australia, and other international centers studied the imaging features of 328 patients with polymicrogyria referred from 6 centers, with detailed clinical data for 183 patients.
J Gordon Millichap
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Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype
Orphanet Journal of Rare Diseases, 2018 Background Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies.
Pei-Yi Lin +11 more
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Diagnostics, 2022 Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis
Georgeta Cardos +6 more
doaj +1 more source
Lissencephaly in Shih Tzu dogs
Acta Veterinaria Scandinavica, 2020 Background Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine.
Diego Noé Rodríguez-Sánchez +4 more
doaj +1 more source
BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.ABSTRACT Objectives To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system. Design Multicentre retrospective cohort study.
Natalia Abadia‐Cuchi +13 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
A Case of Adams–Oliver Syndrome
Advanced Biomedical Research, 2017 Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected.
Minoo Saeidi, Fahime Ehsanipoor
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eLife, 2022 Heterozygous, missense mutations in α- or β-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. We seek to understand whether a mutation’s impact at the molecular and cellular levels scale with the ...
Katelyn J Hoff +4 more
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Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source