Developmental and Epileptic Encephalopathy 1 (DEE1)

Alias:
Epileptic Encephalopathy, Early Infantile, 1
Infantile Epileptic-Dyskinetic Encephalopathy
Eiee1
Issx1
Dee1
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
Developmental and Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy
X-Linked Infantile Spasm Syndrome 1
X-Linked Infantile Spasm Syndrome
Xmesid
Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity
Encephalopathy, Developmental and Epileptic, Type 1
Early Infantile Epileptic Encephalopathy 1
Early Infantile Epileptic Encephalopathy-1
Infantile Spasm Syndrome, X-Linked 1
Infantile Spasm Syndrome X-Linked 1
Ohtahara Syndrome, X-Linked
X-Linked Ohtahara Syndrome
Ohtahara Syndrome X-Linked
West Syndrome, X-Linked
X-Linked West Syndrome
West Syndrome X-Linked
Issx
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 1, also known as epileptic encephalopathy, early infantile, 1, is related to developmental and epileptic encephalopathy 2 and intellectual developmental disorder, x-linked 29, and has symptoms including dyspnea, muscle spasticity and myoclonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 1 is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Neuroscience. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
42
332
129

Medical Symptom

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

Gene & Mutation

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Gene
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Mutations
No data available

Related Drugs

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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
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IF
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