Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ENFL)

Alias:
Adnfle
Autosomal Dominant Sleep-Related Hypermotor Epilepsy
Epilepsy, Nocturnal Frontal Lobe, Type 1
Benign Familial Infantile Seizures, 6
Benign Familial Infantile Seizures 6
Nocturnal Frontal Lobe Epilepsy-4
Enfl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to epilepsy, nocturnal frontal lobe, 2 and epilepsy. An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CHRNB2 (Cholinergic Receptor Nicotinic Beta 2 Subunit), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. Affiliated tissues include brain and eye, and related phenotypes are nocturnal seizures and involuntary movements
Related ID:
MESH:C579932

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
50
473
13

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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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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