Results 161 to 170 of about 369,799 (284)

Lopsided brain: a case of hemispheric dysplasia with cortical malformation in an infant. [PDF]

Sudan J Paediatr
Gupta R, Sachar C, Jindal S, Azad C.
europepmc   +1 more source

Cortical Layer and Spectrotemporal Architecture of Epileptiform Activity in vivo in a Mouse Model of Focal Cortical Malformation. [PDF]

Front Neural Circuits, 2019
Williams AJ, Sun QQ.
europepmc   +1 more source

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

Cortical malformation adjacent to a large pial arteriovenous fistula. [PDF]

BMJ Case Rep
Charan BD, Shah SA, Jain S, Sebastian LJD.   +3 more
europepmc   +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

CNS autoimmune response in the MAM/pilocarpine rat model of epileptogenic cortical malformation. [PDF]

Proc Natl Acad Sci U S A
Costanza M, Ciotti A, Consonni A, Cipelletti B, Cattalini A, Cagnoli C, Baggi F, de Curtis M, Colciaghi F.   +8 more
europepmc   +1 more source

Long-term seizure outcome after epilepsy surgery in patients with mild malformation of cortical development and focal cortical dysplasia

, 2019
Focal cortical dysplasia (FCD) and mild malformation of cortical development (mMCD) are frequent histopathologic diagnoses in patients who undergo surgery for refractory epilepsy.
Veersema, Tim J., van Eijsden, Pieter, Braun, Kees P.J., van Rijen, Peter C., Mühlebner, Angelika, Aronica, Eleonora, Gosselaar, Peter H., Swampillai, Banu, Ferrier, Cyrille H., Spliet, Wim G.M., Brain, Zorglijn FNE Medisch, UMC Utrecht, Pathologie Opleiding, Pathologie Pathologen staf, Pathologie ICT innovatie & ontwikkeling, Pathologie, ZL Kinder Ner en Nec Medisch, Cancer   +18 more
core  

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

Hexamodal awake brain mapping (language, sensorimotor, ictal, visual, auditory) for multilobar resection in a dominant hemisphere parieto-fronto-temporo-occipital cortical malformation with drug-resistant epilepsy. [PDF]

Neurosurg Focus Video
Dasarathan LV, Vilanilam GC, Parate AR, Sreekumar R, Vimala S, Sethuraman M, Menon RN, Radhakrishnan A, Manisha KY, Jayakumari N, Poyuran R, Nair NS, Chembakodan A, Mohan MP, Padmakumari VV, Nair NL, Vashishta R, Kesavadas C, Thomas B, Kesavapisharady K.   +19 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source