FB2024_04 , released June 25, 2024
Human Disease Model Report: developmental and epileptic encephalopathy 57
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General Information
Name
developmental and epileptic encephalopathy 57
FlyBase ID
FBhh0001408
Disease Ontology Term
Parent Disease
OMIM
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57; DEE57
Overview

One of several epileptic diseases associated with defects in human genes KCNT1 or KCNT2, orthologous to Dmel\SLO2. See human disease model report for seizure-sensitive, potassium channel defects, KCNT1-2-related (FBhh0001405).

[updated Nov. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: developmental and epileptic encephalopathy
Symptoms and phenotype
Specific Disease Summary: developmental and epileptic encephalopathy 57
OMIM report

[DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57; DEE57](https://omim.org/entry/617771)

Human gene(s) implicated

[POTASSIUM CHANNEL, SUBFAMILY T, MEMBER 2; KCNT2](https://omim.org/entry/610044)

Symptoms and phenotype

Developmental and epileptic encephalopathy-57 (DEE57) is a neurologic disorder characterized by global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language. Affected individuals have onset of refractory multifocal seizures in the first days or months of life, and may show developmental regression. EEG patterns include hypsarrhythmia, suggesting a clinical diagnosis of West syndrome, background slowing, and epilepsy of infancy with migrating focal seizures (EIMFS). Some patients may have mild dysmorphic features (summary by Ambrosino et al., 2018, pubmed:29740868; Mao et al., 2020, pubmed:32038177). [from MIM:617771; 2021.11.11]

(OMIM, 2013-)
Genetics

Developmental and epileptic encephalopathy-57 (DEE57) is caused by heterozygous mutation in the KCNT2 gene. [from MIM:617771; 2021.11.11]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

KCNT2 encodes an outwardly rectifying potassium channel subunit; activated by high intracellular sodium or calcium levels. Produces rapidly activating outward rectifier K(+) currents.[Gene Cards, KCNT2; 2021.11.11]

(FlyBase Curators, 2013-)
External links
Disease synonyms
DEE57
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    KCNT2; potassium sodium-activated channel subfamily T member 2
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)