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GENATLAS PHENOTYPE

last update : 30-01-2019

Symbol	ENFL1
Location	20q13.33
Name	epilepsy, nocturnal frontal lobe, type 1
Corresponding gene	CHRNA4
Other symbol(s)	ADNFLE, ADNFLE1
Main clinical features	clustered attacks of epileptic episodes originating from the frontal lobe during sleep focal form of epilepsy characterized by seizures occurring during non-REM sleep (Manfredi 2009)
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	cholinergic receptor nicotinic, alpha 4 polypeptide (CHRNA4)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	involving inhibitory synchronization of cortical networks via activation of mutant alpha4-containing nicotinic acetylcholine receptors located on the presynaptic terminals and somatodendritic compartments of cortical GABAergic interneurons

Remark(s)