Developmental and Epileptic Encephalopathy 35 (DEE35)

Alias:
Epileptic Encephalopathy, Early Infantile, 35
Dee35
Developmental and Epileptic Encephalopathy, 35
Eiee35
Itpa-Related Lethal Infantile Neurological Disorder with Cataract and Cardiac Involvement
Early Infantile Epileptic Encephalopathy 35
Itpa-Related Encephalopathy
Martsolf-Like Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 35, also known as epileptic encephalopathy, early infantile, 35, is related to martsolf syndrome 1 and inosine triphosphatase deficiency. An important gene associated with Developmental and Epileptic Encephalopathy 35 is ITPA (Inosine Triphosphatase), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neuroinflammation and glutamatergic signaling. Affiliated tissues include brain and eye, and related phenotypes are cardiomyopathy and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
7
50
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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