Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta (DEE25)

Alias:
Epileptic Encephalopathy, Early Infantile, 25, with Amelogenesis Imperfecta
Developmental and Epileptic Encephalopathy 25, with Amelogenesis Imperfecta
Eiee25
Dee25
Encephalopathy, Epileptic, Early Infantile, Type 25
Developmental and Epileptic Encephalopathy, 25
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta, also known as epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta, is related to developmental and epileptic encephalopathy 25. An important gene associated with Developmental and Epileptic Encephalopathy 25 with Amelogenesis Imperfecta is SLC13A5 (Solute Carrier Family 13 Member 5). The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are global developmental delay and absent speech
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
14
15

Medical Symptom

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Categorization
Description
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No data available

Gene & Mutation

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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