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Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Alias:
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome, is also known as lethal neonatal rigidity-multifocal seizure syndrome. An important gene associated with Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome is BRAT1 (BRCA1 Associated ATM Activator 1).
Related ID：
MALACARDS：LTH036

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
3
23
LTH036

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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