SCN1B‐linked early infantile developmental and epileptic encephalopathy
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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
Early infantile‐onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23675
Abstract: The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6‐year‐old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile‐onset seizures,… read more here.
Keywords: uniparental disomy; microdeletion; homozygous microdeletion; early infantile ... See more keywords
Further delineation of PIGB-related early infantile epileptic encephalopathy.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2021.104268
Abstract: Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated… read more here.
Keywords: epileptic encephalopathy; pigb related; delineation pigb; infantile epileptic ... See more keywords
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
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DOI: 10.1055/s-0042-1742322
Abstract: BACKGROUND Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency associated with mutations in the ITPA gene is a recently characterized purine pathway defect that presents with early infantile epileptic encephalopathy and lethal course. This disorder is rare, and… read more here.
Keywords: early infantile; infantile epilepsy; epilepsy associated; epilepsy ... See more keywords
Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review
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DOI: 10.1111/ene.15424
Abstract: Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and… read more here.
Keywords: early infantile; infantile epileptic; encephalopathy related; epileptic encephalopathy ... See more keywords
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0621-x
Abstract: BackgroundThe link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene… read more here.
Keywords: infantile epileptic; pcdh19 gene; early infantile; gene ... See more keywords
Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy
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DOI: 10.3390/ijms23158708
Abstract: The CYFIP2 protein (cytoplasmic FMR1-interacting protein 2) is part of the WAVE regulatory complex (WRC). CYFIP2 was recently correlated to neurological disorders by the association of the R87C variant with early infantile epileptic encephalopathy (EIEE)… read more here.
Keywords: r87c; early infantile; r87c variant; infantile epileptic ... See more keywords