FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: developmental and epileptic encephalopathy 34
Open Close
General Information
Name
developmental and epileptic encephalopathy 34
FlyBase ID
FBhh0000305
Disease Ontology Term
Parent Disease
OMIM
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34; DEE34
Overview

One of several diseases associated with defects in the human gene SLC12A5. See human disease model report for epilepsy, SLC12A5-related (FBhh0000296). OMIM includes this disease in the phenotypic series epileptic encephalopathy, early infantile (FBhh0000302).

[updated June 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: developmental and epileptic encephalopathy
Symptoms and phenotype
Specific Disease Summary: developmental and epileptic encephalopathy 34
OMIM report

[DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34; DEE34](https://omim.org/entry/616645)

Human gene(s) implicated

[SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 5; SLC12A5](https://omim.org/entry/606726)

Symptoms and phenotype

Early infantile epileptic encephalopathy-34 is a severe neurologic disorder characterized by onset of refractory migrating focal seizures in infancy. Affected children show developmental regression and are severely impaired globally (summary by Stodberg et al., 2015). [from MIM:616645; 2016.06.03]

(OMIM, 2013-)
Genetics

Autosomal recessive. [from MIM:616645; 2016.06.03]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
DEE34
early infantile epileptic encephalopathy-34
EIEE34
epileptic encephalopathy, early infantile, 34
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)