Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
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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
Add‐on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy
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DOI: 10.1002/epi4.12411
Abstract: Abstract Mutations in SYNGAP1 are associated with developmental delay, epilepsy, and autism spectrum disorder (ASD). Epilepsy is often drug‐resistant in this syndrome with frequent drop attacks. In a prospective study of add‐on cannabidiol (CBD), we… read more here.
Keywords: patients syngap1; cannabidiol significantly; add cannabidiol; drop attacks ... See more keywords
Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype.
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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
Effect of fenfluramine on seizures and comorbidities in SCN8A‐developmental and epileptic encephalopathy: A case series
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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
Developmental and epileptic encephalopathy 89: A novel bi‐allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile
Sign Up to like & getrecommendations! 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
The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
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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
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24396
Abstract: Kv4.2 subunits, encoded by KCND2, serve as the pore‐forming components of voltage‐gated, inactivating ISA K+ channels expressed in the brain. ISA channels inactivate without opening in response to subthreshold excitatory input, temporarily increasing neuronal excitability,… read more here.
Keywords: isa channels; state inactivation; developmental epileptic; inactivation ... See more keywords
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy
Sign Up to like & getrecommendations! 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
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
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DOI: 10.1002/mgg3.1874
Abstract: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. read more here.
Keywords: infantile developmental; causes infantile; mutation causes; dync1h1 mutation ... 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
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104340
Abstract: ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene… read more here.
Keywords: epileptic encephalopathy; joint laxity; elfn1 gene; gene ... See more keywords