Results 181 to 190 of about 52,839 (293)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report. [PDF]

Front Endocrinol (Lausanne)
Frulenko I, Ostrowska I, Patalan M, Bertoli-Avella A, León NY, Pinto A, Bauer P, Leśniak A, Katuszonek D, Glińska M, Modrzejewska M, Śmigiel R, Giżewska M.   +12 more
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects. [PDF]

J Inherit Metab Dis
Siri B, Martinelli D, Carrozzo R, Boenzi S, Cairoli S, Rizzo C, Giovanniello T, Häberle J, Dionisi-Vici C.   +8 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Beyond hypoxic-ischemic encephalopathy: genetic insights and precision diagnosis in neonatal encephalopathies. [PDF]

Front Med (Lausanne)
Cimino C, Sortino V, Sapuppo A, Saporito MAN, Scarlata F, Falsaperla R.   +5 more
europepmc   +1 more source

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

Environmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz, Melanie Blanc‐Legendre, Maximilian Rinderknecht, Laura Behnstedt, Sara Coordes, Luisa Reger, Sacha Sire, Xavier Cousin, Thomas Braunbeck, Lisa Baumann   +9 more
wiley   +1 more source

Functional characterization of a biallelic <i>MIPEP</i> variant associated with global developmental delay, infantile epileptic spasms syndrome, and hypotonia. [PDF]

Mol Genet Metab Rep
Ruzzenente B, Becker PH, Afram E, Gaignard P, Rötig A, Nyaga DM, Sharpe C, Sadleir LG, Ryder B, Metodiev MD.   +9 more
europepmc   +1 more source

Cold Exposure to the Recurrent Laryngeal Nerve: A Porcine Continuous Intraoperative Neuromonitoring Model Study

Head &Neck, EarlyView.
ABSTRACT Background Tissue exposure to cold temperatures is common in clinical practice, yet the safety of exposing the recurrent laryngeal nerve (RLN) to cold remains unclear. This study evaluated temperature‐dependent effects of cold exposure on RLN function.
Tzu‐Yen Huang, Hsin‐Yi Tseng, Yi‐Chu Lin, Gregory W. Randolph, Marika Russell, Amr H. Abdelhamid Ahmed, I‐Cheng Lu, Chih‐Hung Lin, Cheng‐Hsun Chuang, Jia Joanna Wang, Leong‐Perng Chan, Feng‐Yu Chiang, Li‐Ren Yeh, Che‐Wei Wu   +13 more
wiley   +1 more source