Results 161 to 170 of about 175,504,466 (285)

Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia and Epilepsy: A Systematic Review. [PDF]

Neurol Genet
Zhan Y, Chen S, Jin Z, Zhou J, Zhang YX, Hou Q, Wang Y, Zheng G, Zheng Y.   +8 more
europepmc   +1 more source

Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development. [PDF]

Ultrasound Obstet Gynecol, 2019
Pooh RK, Machida M, Nakamura T, Uenishi K, Chiyo H, Itoh K, Yoshimatsu J, Ueda H, Ogo K, Chaemsaithong P, Chaemsaithong P, Chaemsaithong P, Poon LC.   +12 more
europepmc   +1 more source

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.
Barkovich, AJ, Walsh, CA, Topcu, M, Tezcan, K, Bodell, A, Grant, PE, Chang, BS, Scheffer, [No Value], Cascino, GD, Woods, CG, Leventer, RJ, Piao, [No Value], Giannini, C   +12 more
core  

Gel‐Free Capture of Microvolt‐Level Neural Signatures Via a 3D Monolithic Carbon Fiber Dry Electrode

Advanced Science, EarlyView.
A compressible carbon fiber/PEDOT:PSS electrode enables gel‐free contact at hairy scalp sites. Its conductive porous framework supports low interfacial impedance and retains contact performance after repeated mechanical and sweat‐related challenges.
Haoxuan Sun, Nikolay Novitskiy, Dongwook Jang, Yixiang Liu, Shaoqi Pan, Ting Huang, Yitong Li, Huisi Yang, Leonardo Nicholas Adi Wijaya, Md Masruck Alam, Patrick CM Wong, Zhaoli Gao   +11 more
wiley   +1 more source

Rare dysfunctional SCN2A variants are associated with malformation of cortical development. [PDF]

Epilepsia
Clatot J, Thompson CH, Sotardi S, Jiang J, Trivisano M, Balestrini S, Ward DI, Ginn N, Guaragni B, Malerba L, Vakrinou A, Sherer M, Helbig I, Somarowthu A, Sisodiya SM, Ben-Shalom R, Guerrini R, Specchio N, George AL, Goldberg EM.   +19 more
europepmc   +1 more source

Malformations of Cortical Development [PDF]

, 2020
openaire   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Asymptomatic extensive right cerebral hemispheric lesion in an adult with histopathological findings consistent with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy: illustrative case. [PDF]

J Neurosurg Case Lessons
Ono R, Miki S, Koiso T, Sugii N, Sakamoto N, Masuda Y, Matsuda M, Shibuya M, Miyata H, Ishikawa E.   +9 more
europepmc   +1 more source

Epileptic Patient with Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia and Epilepsy (MOGHE): A Case Report and Review of the Literature. [PDF]

Case Rep Neurol Med, 2019
Verentzioti A, Blumcke I, Alexoudi A, Patrikelis P, Siatouni A, Korfias S, Sakas D, Gatzonis S.   +7 more
europepmc   +1 more source

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