Results 91 to 100 of about 2,345,783 (392)

Epilepsy – A Brief Overview [PDF]

, 2005
Epilepsy is a neurological condition in which an individual experiences chronic abnormal bursts of electrical discharge in the brain. These seizures can cause a variety symptoms depending on the areas of the brain affected. Symptoms can vary from mild to
Koyama, Alain
core  

Subcellular organization of UBE3A in human cerebral cortex. [PDF]

, 2018
BackgroundLoss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its ...
Burette, Alain C, Chang, Edward F, Judson, Matthew C, Li, Alissa N, Philpot, Benjamin D, Seeley, William W, Weinberg, Richard J   +6 more
core   +3 more sources

Characterizing the Healthcare Utilization and Costs of Hereditary Hemorrhagic Telangiectasia

American Journal of Hematology, EarlyView.
ABSTRACT Hereditary hemorrhagic telangiectasia (HHT) is the second‐most common inherited bleeding disorder worldwide, afflicting one in 4000–5000 people, and is the most morbid inherited bleeding disorder of women. HHT causes recurrent severe epistaxis, chronic gastrointestinal bleeding, heavy menstrual bleeding, and arteriovenous malformations in the ...
Hanny Al‐Samkari, Tracy J. Mayne, Misty Troutt, Hemant Patle, Marianne Clancy, Eric Duhaime   +5 more
wiley   +1 more source

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

BMC Neurology, 2022
Background Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental ...
Kullasate Sakpichaisakul, Rachata Boonkrongsak, Punjama Lertbutsayanukul, Nareenart Iemwimangsa, Sommon Klumsathian, Bhakbhoom Panthan, Objoon Trachoo   +6 more
doaj   +1 more source

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES [PDF]

, 2004
The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F ...
AVONI P, BAGATTIN A, BARUZZI A, BISULLI F, D'ORSI G, FLORINDO I, MICHELUCCI R., NOBILE C, SCUDELLARO E, STRIANO P, STRIANO, SALVATORE, TASSINARI CA, TINUPER P, VIGNATELLI L   +13 more
core  

Phenotype-Based Screening of Synthetic Cannabinoids in a Dravet Syndrome Zebrafish Model. [PDF]

, 2020
Dravet syndrome is a catastrophic epilepsy of childhood, characterized by cognitive impairment, severe seizures, and increased risk for sudden unexplained death in epilepsy (SUDEP).
Anvar, Mana, Baraban, Scott C, Griffin, Aliesha, Hamling, Kyla   +3 more
core   +1 more source

Epileptic Syndromes and Visually Induced Seizures [PDF]

Epilepsia, 2004
Summary:  Seizures induced by photic (or visual) stimuli or photosensitive seizures can be observed in generalized or focal, idiopathic, or symptomatic epilepsies, in progressive neurodegenerative disorders, and even in the context of situation‐related (acute symptomatic) seizures.
GUERRINI, RENZO, Genton P.
openaire   +4 more sources

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Update on rufinamide in childhood epilepsy

Neuropsychiatric Disease and Treatment, 2011
Giangennaro CoppolaClinic of Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, ItalyAbstract: Rufinamide is an orally active, structurally novel compound (1-[(2,6-difluorophenil1)methyl1]-1 hydro 1,2,3-triazole-4 carboxamide ...
Coppola G
doaj