Results 51 to 60 of about 402,861 (290)

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

Surgery for focal cortical dysplasia [PDF]

Neurology, 2004
Focal cortical dysplasia (FCD) frequently is associated with medically intractable epilepsy.1–3⇓⇓ The advent of powerful neuroimaging technology has revolutionized the identification and management of this difficult group of disorders. Despite increasing awareness, surgery historically yields less-promising results than other well-recognized epilepsy ...
openaire   +4 more sources

Multi-tensor diffusion abnormalities of gray matter in an animal model of cortical dysplasia

Frontiers in Neurology, 2023
Focal cortical dysplasias are a type of malformations of cortical development that are a common cause of drug-resistant focal epilepsy. Surgical treatment is a viable option for some of these patients, with their outcome being highly related to complete ...
Paulina J. Villaseñor, David Cortés-Servín, Aylín Pérez-Moriel, Ana Aquiles, Hiram Luna-Munguía, Alonso Ramirez-Manzanares, Ricardo Coronado-Leija, Jorge Larriva-Sahd, Luis Concha   +8 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

The hybrid brain PET/MRI method with ¹⁸F-FDG in the diagnostics of focal cortical dysplasia in patients with focal drug-resistant epilepsy

Клиническая практика
BACKGROUND: Up to 30% of the patients with epilepsy are resistant to drug therapy. One of the leading causes of drug-resistant epilepsy in adults and children is the focal cortical dysplasia. The complete resection of the epileptogenic focus in 60–70% of
Tatiana M. Rostovtseva, Mikhail B. Dolgushin, Andrey V. Dvoryanchikov, Rostislav V. Nadelyaev, Mariya A. Karalkina, Vidzhai M. Dzhafarov, Yulia V. Rubleva, Elena A. Baranova, Olga I. Patsap, Sergey G. Burd   +9 more
doaj   +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

Prenatal magnetic resonance imaging findings of tuberous sclerosis complex in fetuses

Frontiers in Oncology
ObjectiveThis study aimed to characterize the prenatal imaging features of brain and cardiac lesions associated with tuberous sclerosis complex (TSC), with particular focus on fetal magnetic resonance imaging (MRI) findings, and to explore the ...
Linjun Xie, Linjun Xie, Yingkun Guo, Yingkun Guo, Wei Bai, Wei Bai   +5 more
doaj   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Reelin’ in Genes for Cortical Dysplasia [PDF]

Epilepsy Currents, 2001
Malformations of cortical development are a broad family of disorders that are characterized by abnormal cytoarchitecture of the cerebral cortex and a high association with epilepsy. In recent years positional cloning strategies have been implemented to identify several distinct gene mutations that are responsible for developmental brain malformations.
openaire   +2 more sources

Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb

, 2019
Conventional MR imaging has limitations in detecting focal cortical dysplasia. We assessed the added value of 7T in patients with histologically proved focal cortical dysplasia to highlight correlations between neuropathology and ultra-high-field ...
Garbelli, R, Biagi, L, Guerrini, R, Cosottini, M, Spreafico, R, Tassi L., Spreafico R., Costagli M., Giordano F., Bartolini, E, Costagli, M, Buccoliero, A, Buccoliero A., Barba, C, Giordano, F, Bartolini E., Guerrini R., Biagi L., Tassi, L, Cosottini M., Barba C., Garbelli R., Bartolini, E., Giordano, F., Barba, C., Buccoliero, A., Guerrini, R.   +26 more
core   +1 more source