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   Articles with "epileptic encephalopathy" as a keyword



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SCN1B‐linked early infantile developmental and epileptic encephalopathy

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50921

Abstract: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. read more here.

Keywords: epileptic encephalopathy; linked early; scn1b linked; early infantile ... See more keywords
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Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

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recommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51272

Abstract: We report two siblings with intractable epilepsy, developmental regression, and progressive cerebellar atrophy due to biallelic variants in the gene CAD. For the affected girl, uridine started at age 5 resulted in dramatic improvements in… read more here.

Keywords: epileptic encephalopathy; encephalopathy due; responsive epileptic; two siblings ... See more keywords
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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.768

Abstract: Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of… read more here.

Keywords: epileptic encephalopathy; mutations pigp; biallelic mutations; pigp cause ... See more keywords
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Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype.

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recommendations! Published in 2021 at "Epilepsia open"

DOI: 10.1002/epi4.12553

Abstract: Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early-infantile ( read more here.

Keywords: onset myoclonic; epileptic encephalopathy; rars2 phenotype; infantile onset ... See more keywords
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Effect of fenfluramine on seizures and comorbidities in SCN8A‐developmental and epileptic encephalopathy: A case series

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recommendations! Published in 2022 at "Epilepsia Open"

DOI: 10.1002/epi4.12623

Abstract: SCN8A‐developmental and epileptic encephalopathy is caused by pathogenic variants in the SCN8A gene encoding the Nav1.6 sodium channel, and is characterized by intractable multivariate seizures and developmental regression. Fenfluramine is a repurposed drug with proven… read more here.

Keywords: developmental epileptic; scn8a developmental; effect fenfluramine; fenfluramine ... See more keywords
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Developmental and epileptic encephalopathy 89: A novel bi‐allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile

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recommendations! Published in 2023 at "Epilepsia Open"

DOI: 10.1002/epi4.12739

Abstract: Gamma‐aminobutyric acid (GABA), the major inhibitory neurotransmitter in the adult central nervous system, plays an important role during embryonic neural network formation. GAD67 is the rate‐limiting enzyme in GABA synthesis, and its deficiency leads to… read more here.

Keywords: novel allelic; allelic variant; developmental epileptic; epileptic encephalopathy ... See more keywords
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The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

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recommendations! Published in 2023 at "Epilepsia Open"

DOI: 10.1002/epi4.12747

Abstract: ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype… read more here.

Keywords: epilepsy phenotype; developmental epileptic; st3gal3 related; epileptic encephalopathy ... See more keywords
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Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy

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recommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1250

Abstract: To investigate the relationships among phenotypes, genotypes, and funotypes of SCN2A‐related developmental epileptic encephalopathy (DEE). read more here.

Keywords: epileptic encephalopathy; features next; precise step; electrophysiological features ... See more keywords
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Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2024

Abstract: Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal‐onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first‐line treatment with sodium channel… read more here.

Keywords: kcnq2 epileptic; encephalopathy additional; responsive kcnq2; epileptic encephalopathy ... See more keywords
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P 39 The genetic characteristics of epileptic encephalopathy in children

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recommendations! Published in 2017 at "Clinical Neurophysiology"

DOI: 10.1016/j.clinph.2017.06.118

Abstract: Relevance Disclosure of genetic aspects of epilepsy is necessary for a clear understanding of the etiology and pathogenesis of this disease, the search for new ways of correction. Objective to study the molecular and genetic… read more here.

Keywords: epileptic encephalopathy; encephalopathy children; genetic characteristics; state 3184 ... See more keywords
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Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS).

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recommendations! Published in 2020 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2020.103970

Abstract: Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant… read more here.

Keywords: epileptic encephalopathy; early onset; variant aimp1; burst suppression ... See more keywords