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
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
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DOI: 10.1002/ana.78071
Abstract: RNU2-2 is a non-coding small nuclear RNA (snRNA) that forms part of the spliceosome. We identified recurrent pathogenic RNU2-2 variants in 4 of 672 (0.6%) patients with developmental and epileptic encephalopathies (DEEs) of unknown cause.… read more here.
Keywords: non coding; developmental epileptic; rnu2 non; pathogenic variants ... 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
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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
GATAD2B‐related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal
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DOI: 10.1002/epi4.13133
Abstract: Heterozygous pathogenic variants in GATAD2B gene have been related to the GATAD2B‐associated neurodevelopmental disorders (GAND) characterized by neurodevelopmental delay with predominant language impairment, infantile hypotonia, macrocephaly, ophthalmological abnormalities, and dysmorphic facial features with nonspecific findings… read more here.
Keywords: epileptic encephalopathy; developmental epileptic; encephalopathy dee; epilepsy ... See more keywords
Long‐term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy
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DOI: 10.1002/epi4.70087
Abstract: Carbamazepine is the first line treatment for patients affected by KCNQ2 developmental and epileptic encephalopathy. It is efficient to reduce or stop seizures in this context. However, its effect on the neurodevelopmental outcomes is debated.… read more here.
Keywords: epileptic encephalopathy; carbamazepine; kcnq2 developmental; developmental epileptic ... See more keywords
Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.
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DOI: 10.1002/epi4.70192
Abstract: OBJECTIVE Variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of… read more here.
Keywords: epileptic encephalopathy; developmental epileptic; function; dysfunction ... 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