Results 221 to 230 of about 15,708 (241)

Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy. [PDF]

Children (Basel)
Samanta D.
europepmc   +1 more source

Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies. [PDF]

Biomolecules
Medyanik AD, Anisimova PE, Kustova AO, Tarabykin VS, Kondakova EV.   +4 more
europepmc   +1 more source

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Epilepsia, 2023
OBJECTIVE: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also known as WOREE (WWOX-related epileptic encephalopathy).
Melanie Bahlo, Karen Oliver, Gaetan Lesca   +2 more
exaly   +2 more sources

Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome [PDF]

Epileptic Disorders
Objective: Within the spectrum of developmental and epileptic encephalopathy (DEE), there are a group of infants with features that are distinct from the well-recognized syndromes of early infantile developmental and epileptic encephalopathy (EIDEE ...
Chalongchai Phitsanuwong, Shawn Kacker
exaly   +2 more sources

Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B

American Journal of Medical Genetics, Part A, 2019
Developmental and epileptic encephalopathies are genetic disorders in which both the developmental disability and the frequent epileptic activity are the effect of a specific gene variant.
Anne Slavotinek, Shannon Rego, Natasha Darras   +2 more
exaly   +2 more sources

Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster

International Journal of Molecular Sciences, 2020
Developmental and epileptic encephalopathies (DEEs) are the spectrum of severe epilepsies characterized by early-onset, refractory seizures occurring in the context of developmental regression or plateauing. Early infantile epileptic encephalopathy (EIEE)
Tomohiro Chiyonobu, Masamitsu Yamaguchi
exaly   +2 more sources

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NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases

Seizure: the Journal of the British Epilepsy Association, 2021
Robyn Whitney, Vykuntaraju K Gowda, Gautham Arunachal   +2 more
exaly  

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Frontiers in Neurology, 2023
Jianguo Shi, Wandong Hu
exaly  

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

European Journal of Paediatric Neurology, 2020
Jianxian Liao, Ingrid Scheffer
exaly  

Developmental and epileptic encephalopathies: what we do and do not know.

Brain, 2021
Nicola Specchio, Paolo Curatolo
exaly