Results 61 to 70 of about 7,462 (203)

Diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center

Epilepsia Open, Volume 11, Issue 3, Page 871-882, June 2026.
Abstract Objective To investigate the frequency, predictors, and clinical implications of diagnostic reassessment in patients previously diagnosed with childhood‐onset epilepsy during the transition period to adult care at a tertiary epilepsy center. Methods We conducted a retrospective cohort study of 317 patients previously diagnosed with childhood ...
Tetsuhiro Fukuyama, Masaru Nasuno, Manami Yabe, Makoto Nishioka, Yumi Hoshino, Takenori Natsume, Kohei Kanaya, Kyoko Takano, Tomoki Kaneko, Yushi Inoue   +9 more
wiley   +1 more source

Lissencephaly with CMV Infection: A Case Study

, 2021
A nine months old baby boy was admitted in a pediatric ward at SGG Hospital, Vadodara diagnosed with lissencephaly associated with Cytomegalo virus (CMV) infection. Lissencephaly includes severe brain deformations. Cytomegaly infection is popularly known
Tousif Idrisi, Amit Sarkar, Shring Sandilya   +2 more
core   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Clinical Case Reports, 2021
Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart   +10 more
doaj   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

The Long Haul: Microtubule Motors as the Essential Supply Line for Neuronal Longevity

Journal of Neurochemistry, Volume 170, Issue 6, June 2026.
To survive a lifetime, neurons depend on a high‐fidelity logistics network powered by microtubule motors. We explore how a broad spectrum of genetic defects in this machinery drive a devastating spectrum of neurodevelopmental and neurodegenerative diseases, including Hereditary Spastic Paraplegia (HSP), Charcot–Marie‐Tooth Type 2 (CMT2), and ...
Emma D. Turner, Alison E. Twelvetrees
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

Electrographic Changes Accompanying Recurrent Seizures under Ketogenic Diet Treatment

Pharmaceuticals, 2017
The ketogenic diet (KD) is increasingly used to treat epilepsy refractory to antiepileptic drugs and other neurological disorders. In animal models, the KD was found to increase the threshold to seizures induced by different convulsive stimulations ...
Chiara Lucchi, Maddalena Marchiò, Elisa Caramaschi, Carmela Giordano, Rocco Giordano, Azzurra Guerra, Giuseppe Biagini   +6 more
doaj   +1 more source

Altered thalamocortical tract trajectory growth with undisrupted thalamic parcellation pattern in human lissencephaly brain at mid-gestational stage

Neurobiology of Disease
Proper topographically organized neural connections between the thalamus and the cerebral cortex are mandatory for thalamus function. Thalamocortical (TC) fiber growth begins during the embryonic period and completes by the third trimester of gestation ...
Sheng-Min Huang, Kuan-Hung Cho, Koping Chang, Pei-Hsin Huang, Li-Wei Kuo   +4 more
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