FB2024_04 , released June 25, 2024
Human Disease Model Report: developmental and epileptic encephalopathy 11
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General Information
Name
developmental and epileptic encephalopathy 11
FlyBase ID
FBhh0000307
Disease Ontology Term
Parent Disease
OMIM
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11
Overview

One of several diseases associated with defects in the human gene SCN2A, one of multiple sodium channel alpha subunits in human. See human disease model report for epilepsy, SCN-alpha-related (FBhh0000289). OMIM includes this disease in the phenotypic series developmental and epileptic encephalopathy (FBhh0000302).

[updated Feb. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: developmental and epileptic encephalopathy
Symptoms and phenotype
Specific Disease Summary: developmental and epileptic encephalopathy 11
OMIM report

[DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11](https://omim.org/entry/613721)

Human gene(s) implicated

[SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 2; SCN2A](https://omim.org/entry/182390)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
DEE11
early infantile epileptic encephalopathy-11
EIEE11
epileptic encephalopathy, early infantile, 11
Ortholog Information
Human gene(s) in FlyBase
    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
        Allele
        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 (2)