Results 51 to 60 of about 29,317 (266)

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

Patterns of hypometabolism in frontal lobe epilepsy originating in different frontal regions

Annals of Clinical and Translational Neurology, 2022
Objectives Analysis of FDG‐PET imaging commonly shows that hypometabolism extends into extra‐epileptogenic zones (extra‐EZ). This study investigates the distribution patterns of hypometabolism in frontal lobe epilepsy (FLE) originating in different ...
Zexian Zhao, Hong Li, Shan Wang, Cong Chen, Chenmin He, Lingli Hu, Zhe Zheng, Junming Zhu, Meiping Ding, Shuang Wang, Yao Ding   +10 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Ictal barking in frontal lobe epilepsy

Journal of Integrative Medicine and Research
Nonspeech vocalizations are usually seen in temporal or frontal lobe epileptic focus, especially in the dominant side of the brain. There can be screaming, hooting, barking, humming grunting, etc., Barking is most characteristic, which is commonly seen ...
Titas Chaudhuri, Swayanka Samantray, Sanjay Raj, Jayaprakash Russell Ravan, Jigyansa Ipsita Pattnaik, Udit Kumar Panda   +5 more
doaj   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Symptomatic nocturnal frontal lobe epilepsy

Seizure, 1998
Nocturnal frontal lobe epilepsy (NFLE) is a disorder characterised by clusters of brief motor seizures during sleep, often without surface EEG epileptiform abnormalities’“. For these reasons, the prevalence of this disorder has probably been underestimated.
Oldani A, FERINI STRAMBI , LUIGI, Zucconi M.   +2 more
openaire   +3 more sources

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Diabetes and the Metabolic Syndrome as Drivers of Neurodegeneration: Convergent Mechanisms Linking Peripheral Neuropathy and Dementia

Annals of Neurology, EarlyView.
The metabolic syndrome, a state of progressive metabolic dysfunction, injures the peripheral and central nervous systems, promoting peripheral neuropathy (PN) and cognitive impairment (CI), respectively. We posit PN and CI are connected in the metabolic syndrome framework, built on the premise that neurons, whether in the peripheral or central nervous ...
Masha G. Savelieff, David L. Bennett, Troels S. Jensen, Eva L. Feldman   +3 more
wiley   +1 more source

Surgical Treatment of Epilepsy: 40 Years Experience

Pediatric Neurology Briefs, 1993
The results of surgical treatment between 1940 and 1980 of 118 children with frontal or temporal lobe epilepsy were reviewed at the Montreal Neurological Institute.
J Gordon Millichap
doaj   +1 more source

Perivascular Spaces as Determinants of Amyloid, Tau, and Vascular Biomarker Progression

Annals of Neurology, EarlyView.
Objective Magnetic resonance imaging (MRI)‐visible enlarged perivascular spaces (PVS) are markers of cerebral small vessel disease (SVD) and aging, processes implicated in both neurodegenerative and cerebrovascular pathologies. However, longitudinal positron emission tomography (PET) studies examining PVS as a mechanism underlying Alzheimer's disease ...
Audrey Low, Jeffrey L. Gunter, Mingzhao Hu, Sheelakumari Raghavan, Scott A. Przybelski, Christopher G. Schwarz, Kejal Kantarci, Val J. Lowe, Ronald C. Petersen, Jonathan Graff‐Radford, Clifford R. Jack Jr, Prashanthi Vemuri   +11 more
wiley   +1 more source