Genetic basis of sleep phenotypes and rare neurodevelopmental syndromes reveal shared molecular pathways
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Neuroscience Research"
DOI: 10.1002/jnr.25180
Abstract: Sleep‐related phenotypes have been frequently reported in early on‐set epileptic encephalopathies and in developmental delay syndromes, in particular in syndromes related to autism spectrum disorder. Yet the convergent pathogenetic mechanisms between these comorbidities are largely… read more here.
Keywords: neurodevelopmental disorders; developmental delay; epileptic encephalopathies; molecular pathways ... See more keywords
Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies
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DOI: 10.1002/mgg3.926
Abstract: The seizure threshold 2 (SZT2) gene encodes a large, highly conserved protein that lowers seizure threshold and may also enhance epileptogenesis. In this study, three patients diagnosed with SZT2‐related developmental and epileptic encephalopathies (DEEs) were… read more here.
Keywords: novel szt2; epileptic encephalopathies; mutations three; szt2 mutations ... See more keywords
Neonatal Epileptic Encephalopathies.
Sign Up to like & getrecommendations! Published in 2021 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2021.100880
Abstract: The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and… read more here.
Keywords: epilepsy syndromes; neurology; neonatal epileptic; epileptic encephalopathies ... See more keywords
Genetic and clinical variations of developmental epileptic encephalopathies
Sign Up to like & getrecommendations! Published in 2023 at "Neurological Research"
DOI: 10.1080/01616412.2023.2170917
Abstract: ABSTRACT Objective The concept of ‘developmental and epileptic encephalopathy (DEE)’ recognises that in infants presenting with severe early-onset epilepsy, neurodevelopmental comorbidity may be attributable to both the underlying cause and to adverse effects of uncontrolled… read more here.
Keywords: clinical variations; developmental epileptic; variations developmental; epileptic encephalopathies ... See more keywords
Learnings in developmental and epileptic encephalopathies: what do we know?
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DOI: 10.1080/14737175.2023.2176221
Abstract: ABSTRACT Introduction Developmental and Epileptic Encephalopathies (DEEs) encompass a group of neurological disorders caused by either abnormal neuronal development and white matter maturation or even by weak synaptic plasticity. Hitherto, patients commonly have epileptic seizures… read more here.
Keywords: development; developmental epileptic; epileptic encephalopathies; learnings developmental ... See more keywords
New and emerging pharmacologic treatments for developmental and epileptic encephalopathies
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000001029
Abstract: Purpose of review Summarize evidence on Developmental and Epileptic Encephalopathies (DEEs) treatments focusing on new and emerging pharmacologic therapies (see Video, http://links.lww.com/CONR/A61, Supplementary Digital Content 1, which provides an overview of the review). Recent findings… read more here.
Keywords: pharmacologic treatments; emerging pharmacologic; new emerging; developmental epileptic ... See more keywords
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Epilepsia"
DOI: 10.1111/epi.16316
Abstract: Developmental epileptic encephalopathies (DEEs) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive deficits. In this study, we explored the pathogenic mechanisms of DEE‐associated de novo mutations in the CACNA1A gene. read more here.
Keywords: epileptic encephalopathies; loss function; function loss; function ... See more keywords
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
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DOI: 10.1152/physrev.00063.2021
Abstract: Developmental and epileptic encephalopathies are a heterogeneous group of disorders characterized by early-onset, often severe epileptic seizures, EEG abnormalities, on a background of developmental impairment that tends to worsen as a consequence of epilepsy. DEEs… read more here.
Keywords: heterogeneity phenotypic; genetic heterogeneity; developmental epileptic; encephalopathies genetic ... See more keywords
Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review
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DOI: 10.1159/000519318
Abstract: Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other… read more here.
Keywords: epileptic encephalopathies; nonsyndromic early; onset epileptic; kctd7 mutations ... See more keywords
Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?
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DOI: 10.1177/15357597211038180
Abstract: Objective: To assess the benefits and limitations of whole genome sequencing (WGS) compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis of developmental and epileptic encephalopathies (DEEs). Methods: We performed WGS… read more here.
Keywords: epileptic encephalopathies; solving molecular; structural variants; complex structural ... See more keywords
Advances toward precision therapeutics for developmental and epileptic encephalopathies
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2023.1140679
Abstract: Developmental and epileptic encephalopathies are childhood syndromes of severe epilepsy associated with cognitive and behavioral disorders. Of note, epileptic seizures represent only a part, although substantial, of the clinical spectrum. Whether the epileptiform activity per… read more here.
Keywords: toward precision; precision therapeutics; developmental epileptic; epileptic encephalopathies ... See more keywords