IRIS  Catalogo Istituzionale della Ricerca dell'Università degli Studi del Molise

Differences In Serum Levels Of Lysophosphatidic Acid And Orexin/Hypocretin In Normal Weight And Obese Patients, Along The Continuum From Health People To Alzheimer’s Disease

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report on 2 females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome or with DEE with migrating focal seizures. After in vitro ...

Identification of a Potent Tryptophan-Based TRPM8 Antagonist with in Vivo Analgesic Activity

TRPM8 has been implicated in nociception and pain and is currently regarded as an attractive target for the pharmacological treatment of neuropathic pain syndromes. A series of analogues of N,N′-dibenzyl tryptamine 1, a potent TRPM8 antagonist, was prepared and screened using a fluoresc...

Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare early-onset developmental epileptic encephalopathy resistant to anti-epileptic drugs. The most common cause for EIMFS is a gain-of-function mutation in the KCNT1 potassium channel gene, and treatment with the KCNT1 blocker q...