Results 51 to 60 of about 713,420 (262)

Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia

, 2017
Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-
Vrielynck, Pascal, Santos, Susana Ferrao, Riëm El Tahry, Tahry, Riëm El, Renaud Lhommel, Lhommel, Renaud, Hohenbichler, Katharina, Katharina Hohenbichler, Pascal Vrielynck, Lelotte, Julie, Julie Lelotte, Susana Ferrao Santos   +11 more
core   +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

Abnormal Blood Oxygen Level-Dependent Fluctuations in Focal Cortical Dysplasia and the Perilesional Zone: Initial Findings [PDF]

, 2018
BACKGROUND AND PURPOSE: Focal cortical dysplasia is a common cause of intractable epilepsy for which neurosurgery is an option. Delineations of a focal cortical dysplasia lesion on structural brain images may not necessarily reflect the functional ...
Hofman, P.A.M., L. Gupta, Jansen, J. F. A.; id_orcid, Backes, W. H., Besseling, R.M.H., Besseling, R. M. H., R.M.H. Besseling, P.A.M. Hofman, Hofman, P. A. M., W.H. Backes, J.F.A. Jansen, Jansen, J.F.A.; id_orcid, Gupta, L., Backes, W.H.   +13 more
core   +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

Cerebral palsy and seizures in a child with tubulinopathy pattern dysgenesis and focal cortical dysplasia

Radiology Case Reports, 2017
A 7-year-old boy with a history of spasticity, global developmental delay, and seizures was given the general diagnosis of cerebral palsy at an early age. Chromosomal array analysis performed at an outside center was normal.
Kevin M. Sweet, MS, Dennis W.W. Shaw, MD, Teresa Chapman, MD, MA   +2 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

Outcome of Epilepsy Surgery for Extratemporal Focal Cortical Dysplasia [PDF]

Zagazig University Medical Journal
Background: Focal cortical dysplasia, a malformation of cortical development, is the most prevalent cause of drug-resistant epilepsy in children and the second or third most common cause in adults.Aim: To analyze the outcome of resective surgery in the ...
Ahmed Morsy, Adel Ismaeil, Ahmed Ali, Mustafa El-Zohiery   +3 more
doaj   +1 more source

Preoperative Sagittal Tibial Tubercle‐Trochlear Groove Distance Predicts Postoperative Outcome in Patients Undergoing Combined Trochleoplasty and Medial Patellofemoral Ligament Reconstruction

Arthroscopy, EarlyView.
Purpose To evaluate the association between the preoperative sagittal tibial tubercle‐trochlear groove (sTTTG) distance and postoperative patient‐reported outcomes after combined patellofemoral ligament reconstruction and deepening trochleoplasty in patients with recurrent lateral patellar instability and high‐grade trochlear dysplasia.
Sebastian Schmidt, Luis Navas, Felix Zimmermann, Abd El Nasser Oudeh, Christian Lattermann, Peter Balcarek   +5 more
wiley   +1 more source

Depdc5 knockout rat: A novel model of mTORopathy

Neurobiology of Disease, 2016
DEP-domain containing 5 (DEPDC5), encoding a repressor of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies and focal cortical dysplasia.
Elise Marsan, Saeko Ishida, Adrien Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, Caroline Treins, Mario Pende, Delphine Roussel, Michel Le Van Quyen, Tomoji Mashimo, Takehito Kaneko, Takashi Yamamoto, Tetsushi Sakuma, Séverine Mahon, Richard Miles, Eric Leguern, Stéphane Charpier, Stéphanie Baulac   +19 more
doaj   +1 more source

Ultrasound assisted awake epilepsy surgery for type iiB focal cortical dysplasia in eloquent areas

, 2021
Focal cortical dysplasia (FCD) type IIb is a frequent cause of pharmacoresistant epilepsy. However, intraoperative identification of the pathological tissue still remains a challenge despite the use of neuronavigation, particularly when it lies in ...
Marucci G., Meletti S., Michelucci R., Volpi L., Martinoni M., Giulioni M., Lilia VOLPI, Marco GIULIONI, Roberto MICHELUCCI, Gianluca MARUCCI, Stefano MELETTI, Matteo MARTINONI   +11 more
core   +1 more source