Results 81 to 90 of about 73,639 (264)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Lesionectomy for Temporal Lobe Lesion Can Results in Reduced Need of Antiepileptic Drugs. [PDF]

Pan Arab Journal of Neurosurgery
Background: Seizure outcomes after laminectomy have been proven to be equivalent to excision, which ablates the epileptogenic cortex with the lesion.
Akhlaque Hossain Khan, Bipin Chaurasia, Md.Tauhidur Rahman, Tandin Dorji, Sazzadul Bari, Alok Jha, Abu Saleh Md. Abu Obaida, Vishal Chavda, Nicola Montemurro, Atanna Yeamoon, Mamun Ahmed, Farheen Anika, Asifur Rahman   +12 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

The role of surgery in epilepsy

Cleveland Clinic Journal of Medicine, 1983
Surgery for the reduction or elimination of seizures in epilepsy is not a new therapeutic technique. The criteria for surgical candidates have evolved over the past 40 years so that individuals with epilepsy are not subjected to surgery unless it is considered beneficial after careful evaluation of the patient’s condition.
openaire   +2 more sources

AI‐Driven Mapping of Seizure Spread Patterns

Annals of Neurology, EarlyView.
Objective The focus of epilepsy research has largely been on seizure onset; however, physicians typically examine the patterns of seizure spread past seizure onset as well. This study aims to align automated seizure analysis with clinical practice, leverage deep learning to standardize seizure annotations that varies among physicians, and understand ...
Andrew Y. Revell, Marc Jaskir, Akash R. Pattnaik, William K. S. Ojemann, Erin Conrad, Nishant Sinha, Brittany H. Scheid, Alfredo Lucas, John M. Bernabei, John Beckerle, Joel M. Stein, Sandhitsu R. Das, Brian Litt, Kathryn A. Davis   +13 more
wiley   +1 more source

Delineating abnormal individual structural covariance brain network organization in pediatric epilepsy with unilateral resection of visual cortex

Epilepsy & Behavior Reports
Although several previous studies have used resting-state functional magnetic resonance imaging and diffusion tensor imaging to report topological changes in the brain in epilepsy, it remains unclear whether the individual structural covariance network ...
Liang Zhang, Bei Zhuang, Mengyuan Wang, Jie Zhu, Tao Chen, Yang Yang, Haoting Shi, Xiaoming Zhu, Li Ma   +8 more
doaj   +1 more source

Multimodal Image Guidance in Subthalamic Deep Brain Stimulation for Parkinson's Disease

Annals of Neurology, EarlyView.
Objective Accurate electrode placement and individual stimulation parameters influence the outcomes of subthalamic deep brain stimulation in Parkinson's disease. Neuroimaging‐based models can help evaluate how electrode placement impacts improvement, aiming to reduce the burden of programming.
Patricia Zvarova, Christina van der Linden, Ningfei Li, Konstantin Butenko, Thea Berger, Garance M. Meyer, Ilkem Aysu Sahin, Lukas L. Goede, Bahne H. Bahners, Barbara Hollunder, Till A. Dembek, Andrew R. Pines, Martin Reich, Jens Volkmann, Vincent J. J. Odekerken, Rob M. A. de Bie, Xin Xu, Zhipei Ling, Chen Yao, Andrea A. Kühn, Surjo R. Soekadar, Kerstin Ritter, Michael T. Barbe, Veerle Visser‐Vandewalle, Michael D. Fox, Jan Niklas Petry‐Schmelzer, Nanditha Rajamani, Andreas Horn   +27 more
wiley   +1 more source