Results 81 to 90 of about 7,495 (203)
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 +10 more
wiley +1 more source
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly [PDF]
Mutations in the α-1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical lissencephaly but with a specific combination of features.
Martin, P. +36 more
core +1 more source
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. [PDF]
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of ...
Mane, Shrikant +31 more
core +1 more source
Electrographic Changes Accompanying Recurrent Seizures under Ketogenic Diet Treatment
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 +6 more
doaj +1 more source
Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins +6 more
doaj +1 more source
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)
Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen +4 more
doaj
Lizensefali Tip 1'in eşlik ettiği dikkat eksikliği ve hiperaktivite bozukluğu
Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) dikkatsizlik, dikkat dağınıklığı, yerinde duramama,aşırı hareketlilik, dürtüsellik ile karakterizedir. DEHB'de beyinde yapısal ve fonksiyonel değişikliklerin olduğuna dair kanıtlar vardır.
Dilcan Kotan +2 more
doaj +1 more source
Layering has been a long-appreciated feature of higher order mammalian brain structures but the extent to which it plays an instructive role in synaptic specification remains unknown.
James A D'Amour +4 more
doaj +1 more source
LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity [PDF]
International audienceObjective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine ...
Des Portes, Vincent +23 more
core +1 more source
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka +9 more
doaj +1 more source

