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About 803 results

ALLMedicine™ Epileptic Encephalopathies Center

Research & Reviews  305 results

All our knowledge begins with the antisenses.
https://doi.org/10.1172/JCI155233
The Journal of Clinical Investigation; Goldberg EM

Dec 2nd, 2021 - Epilepsy is the neurological disorder defined by spontaneous recurrent seizures, which are abnormal patterns of electrical discharge in the brain. A major advance in neurology over the last 20 years is the identification of genetic variation as an...

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
https://doi.org/10.1093/brain/awab409
Brain : a Journal of Neurology; Manivannan SN, Roovers J et. al.

Nov 18th, 2021 - FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating the cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated pati...

Long-term effectiveness and adverse effects of ketogenic diet therapy in infants with d...
https://doi.org/10.1016/j.eplepsyres.2021.106793
Epilepsy Research; Armeno M, Verini A et. al.

Nov 12th, 2021 - Ketogenic diet therapy (KDT) is a metabolic treatment with proven effectiveness for the treatment of drug-resistant epilepsy in children. Although previously not used in infants under 2 years of age, recent studies have shown KDT to be highly effe...

Epilepsy in adults with neurodevelopmental disability - what every neurologist should k...
https://doi.org/10.1684/epd.2021.1366
Epileptic Disorders : International Epilepsy Journal With... Watkins LV, Linehan C et. al.

Nov 10th, 2021 - This seminar in epileptology addresses Learning Objective 6.1.4 of the International League against Epilepsy Curriculum: Demonstrate the ability to recognize and manage the special needs of persons with epilepsy (and Neurodevelopmental Disorders [...

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial di...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565085
BMJ (Clinical Research Ed.); Schon KR, Horvath R et. al.

Nov 5th, 2021 - To determine whether whole genome sequencing can be used to define the molecular basis of suspected mitochondrial disease. Cohort study. National Health Service, England, including secondary and tertiary care. 345 patients with suspected mitochond...

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Clinicaltrials.gov  4 results

Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy
https://clinicaltrials.gov/ct2/show/NCT04802135

Mar 17th, 2021 - Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic synd...

A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants W...
https://clinicaltrials.gov/ct2/show/NCT03650452

Feb 18th, 2021 - The drug being tested in this study is called TAK-935 (OV935). This randomized, double-blind study will assess the effects of TAK-935 (OV935), compared to placebo, on efficacy, safety, and tolerability in pediatric participants with Dravet syndrom...

Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling
https://clinicaltrials.gov/ct2/show/NCT03652246

Aug 29th, 2018 - Congenital epileptic encephalopathies (EE) are predominantly genetic in origin. Their diagnosis is hampered by the large number of genes involved and their low recurrence. Genetic study in routine diagnosis is limited by the existing techniques an...

Molecular Genetics in Infantile Spasms
https://clinicaltrials.gov/ct2/show/NCT02885389

Aug 31st, 2016 - Infantile Spasms syndrome (ISs) is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life. West syndrome represents a subset of ISs that associates spasms in clusters, a hypsarrhythmia EEG pattern and a d...

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News  12 results

CBD Gel a Promising Adjunct for Kids With Severe Epilepsy
https://www.medscape.com/viewarticle/958889

Sep 16th, 2021 - Topical cannabidiol (CBD) gel, added to antiseizure medication, may help reduce seizures and improve quality of life in children with developmental and epileptic encephalopathies, according to the results of a nonrandomized controlled trial. Devel...

Ketogenic diets are what’s cooking for drug-refractory epilepsy
https://www.mdedge.com/familymedicine/article/206419/epilepsy-seizures/ketogenic-diets-are-whats-cooking-drug-refractory
Clinical Neurology News; Bruce Jancin

Aug 14th, 2019 - BANGKOK – For a form of epilepsy treatment that’s been around since the 1920s, ketogenic diet therapy has lately been the focus of a surprising wealth of clinical research and development, Suvasini Sharma, MD, observed at the International Epileps.

Well-Controlled Epilepsy Also Tied to Sudden Death
https://www.medscape.com/viewarticle/914617

Jun 19th, 2019 - Although people with refractory epilepsy, including some with frequent, ongoing convulsive seizures, are at high risk for sudden unexpected death in epilepsy (SUDEP), a large North American registry study reveals that even those with well-controll...

Transdermal CBD gel decreases recalcitrant focal seizures
https://www.mdedge.com/neurology/article/190157/epilepsy-seizures/transdermal-cbd-gel-decreases-recalcitrant-focal-seizures?channel=39313
Michele G. Sullivan

Dec 3rd, 2018 - NEW ORLEANS – A synthetic, transdermal, cannabidiol gel reduced the rate of seizures by half in a group of adults with treatment-resistant focal seizures who were participating in an open-label, long-term extension trial. Michele G.

AED Choice Requires an Individualized Approach
https://www.mdedge.com/neurology/epilepsyresourcecenter/article/141154/epilepsy-seizures/aed-choice-requires

Jun 26th, 2017 - Jacqueline A. French, MD BOSTON—There is no such thing as a one-size-fits-all approach to epilepsy therapy, according to an overview presented at the 69th Annual Meeting of the American Academy of Neurology.

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