Results 41 to 50 of about 1,664 (151)

Dystrophinopathy with a <i>DMD</i> exon 49-50 deletion in a female patient who developed schizophrenia: An autopsy case. [PDF]

PCN Rep
Abstract Background Mutations in DMD affect not only muscles but also the brain. Cases of schizophrenia with DMD mutations have been described previously. Although female dystrophinopathy often has a milder phenotype, some affected females also have intellectual disabilities and psychiatric disorders.
Arafuka S, Torii Y, Miwa A, Kushima I, Sekiguchi H, Fujishiro H, Habuchi C, Miyahara H, Kawai Y, Wei R, Tokunaga K, Ozaki N, Yoshida M, Iritani S, Iwasaki Y, Ikeda M.   +15 more
europepmc   +2 more sources

Malformations of cortical development: Embryology and epilepsy. [PDF]

Epilepsia
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
Hoeberigs MC, Tousseyn S, ACE Study Group.   +2 more
europepmc   +2 more sources

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain. [PDF]

Epilepsia
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Fazekas F, Haboosheh A, Hennebichler B, Roetzer-Pejrimovsky T, Binder J, Reischer T, Pfeifer M, Scharrer A, Worda C, Linder T, Farr A, Höftberger R, Gelpi E, Mitter C, Kasprian G, Haberler C, Amberg N.   +16 more
europepmc   +2 more sources

Nasal glial heterotopia: A rare interdisciplinary surgical challenge in newborns

La Pediatria Medica e Chirurgica, 2021
Nasal Glioma (NG) represents a rare congenital abnormality of the neonate, which can be associated with skull defects or even a direct communication to the central nervous system.
Paolo Gasparella, Georg Singer, Stephan Spendel, Eszter Nagy, Hans Georg Eder, Philipp Klaritsch, Holger Till, Emir Q. Haxhija   +7 more
doaj   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

The Differential Diagnosis of Congenital Developmental Midline Nasal Masses: Histopathological, Clinical, and Radiological Aspects

Diagnostics, 2023
Developmental midline nasal masses including nasal dermoids (NDs), encephaloceles (EPHCs), and nasal glial heterotopias (NGHs) are a consequence of disrupted embryonal developmental processes in the frontonasal region.
Michal Kotowski
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Glial heterotopia in head and neck, single center experience of 5 cases

, 2017
Background: Heterotopic neuroglial tissue is defined as a mass composed of mature brain tissue isolated from the cranial cavity or spinal canal. The nose and the naso-pharynx are the most common sites of location.
Suggula, Ramakrishna, Namala, Vivekanand, Dandala, Sreedhar Reddy, Penta, Ravikumar, Tati, Shankar, Arikeri, Ramyapriyadarshini, Pindicura, Kumudachalam   +6 more
core   +1 more source