Results 31 to 40 of about 6,069 (199)

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

, 2023
Importance: Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits.
Ganesh, Vijay, Akula, Shyam S.K., Walsh, Christopher C.A., Smith, Richard R.S., Al Saffar, Muna, Andermann, Eva, Talkowski, Michael M.E., Wong, Isaac, Hylton, Norma N.K., DiTroia, Stephanie S.P., Marciano, Jack J.H., Kirkham, Samantha, Hill, Robert Sean, Poduri, Annapurna, Brand, Harrison, Barkovich, Anthony James, Harris, David D.J., Millan, Francisca, Doan, Ryan R.N., Amrom, Dina, Yang, Edward, Yeh, Rebecca R.C., O'Donnell-Luria, Anne, Lai, Abbe, Braddock, Stephen S.R., Neil, Jennifer J.E., Shao, Diane D.D., Mochida, Ganeshwaran G.H., Chen, Allen A.Y., O'Kane, Katherine, Kenny, Connor C.J., Murphy, Andrea A.V., Klemp, Kara K.C., Mo, Alisa, Song, Janet J.H.T.   +34 more
core   +1 more source

Specific language impairment: linguistic and neurobiological aspects Distúrbio específico de linguagem: aspectos linguísticos e neurobiológicos

Arquivos de Neuro-Psiquiatria, 2006
Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and ...
Simone Rocha de Vasconcelos Hage, Fernando Cendes, Maria Augusta Montenegro, Dagma V. Abramides, Catarina A. Guimarães, Marilisa Mantovani Guerreiro   +5 more
doaj   +1 more source

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Brain Sciences, 2018
The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions ...
Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis, Heather E. Olson, P. Ellen Grant, Richard H. Scott, Neil Stoodley, Julie S. Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila M. Palmer-Smith, Hood Mugalaasi, Jonathan G. L. Mullins, Daniela T. Pilz, Andrew E. Fry   +17 more
doaj   +1 more source

Genetics of the polymicrogyria syndromes [PDF]

Journal of Medical Genetics, 2005
Polymicrogyria is a relatively common malformation of cortical development, characterised by multiple small gyri with abnormal cortical lamination. The different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings.
Jansen, Anna, Andermann, E
openaire   +3 more sources

Bilateral generalized polymicrogyria (BGP) - A distinct syndrome of cortical malformation

, 2004
Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally.
Cascino GD, Chang BS, Piao X, Woods CG, Bodell A, Barkovich AJ, Scheffer I, Walsh CA, Giannini C, Topcu M, Tezcan K, Grant PE, Leventer RJ   +12 more
core   +5 more sources

Multiple Stereoelectroencephalography-Guided Radiofrequency Thermocoagulations for Polymicrogyria With Startle Seizures: A Case Report

Frontiers in Neurology, 2019
The best results of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) were observed in epilepsies with more limited lesions, but this procedure is rarely used in a wide range of brain malformation.
Yi'Ou Liu, Wenjing Zhou, Bo Hong, Tong Zhao, Chengwei Xu, Jing Ruan, Jianjun Bai, Siyu Wang   +7 more
doaj   +1 more source

Bilateral Perisylvian Syndrome with Typical Imaging Features– A Case Report [PDF]

International Journal of Anatomy Radiology and Surgery, 2019
Bilateral perisylvian syndrome is a congenital neurological disorder characterised by abnormal distribution of neurons in cortex. Unilateral entity may also occur but is less common.
Rama Krishna Narra, Anne Mahesh Krishna, Boddepalli Manjeera, Putcha Anusha   +3 more
doaj   +1 more source

Clinical and electroencephalographic features of patients with polymicrogyria

, 2015
Polymicrogyria is a malformation of cortical organization. The aim of this historic cohort study was to describe clinical and EEG features of patients with polymicrogyria. Patients underwent clinical and neurologic examination and a prolonged routine EEG
Guerreiro, MM, Guimaraes, CA, Teixeira, KCS, Montenegro, MA, Cendes, F, Guerreiro, CAM   +5 more
core   +1 more source

Polymicrogyria in Standard Poodles [PDF]

Journal of Veterinary Internal Medicine, 2009
Abstract Background Polymicrogyria is a disorder of cerebrocortical migration resulting in increased numbers of small, disorganized gyri. This disorder occurs in Standard Poodles and in cattle. Objectives To describe ...
C, Jurney, J, Haddad, N, Crawford, A D, Miller, T J, Van Winkle, C H, Vite, P, Sponenberg, K D, Inzana, C R, Cook, L, Britt, D P, O'Brien   +10 more
openaire   +2 more sources

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source