Epilepsy, Early-Onset, 2, with or Without Developmental Delay (EPEO2)

Alias:
Epilepsy, Early-Onset, with or Without Developmental Delay
Epeo2
Epedd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Early-Onset, 2, with or Without Developmental Delay, also known as epilepsy, early-onset, with or without developmental delay, is related to early-onset epilepsy 2. An important gene associated with Epilepsy, Early-Onset, 2, with or Without Developmental Delay is SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase). Affiliated tissues include brain and testis, and related phenotypes are bilateral tonic-clonic seizure and hydrocele testis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
13
4

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
Function
Score
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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