[MIM 600 513, 603 204, 605 375, 610 353, 615 005]

(ADNFLE)

Rare but probably often not diagnosed or mistaken for parasomnia. Generic term which includes various entities the clinical manifestations of which are similar: episodes of intermittent dystonia or choreoathetotic movements, generally stereotyped and of short duration, that begin during sleep. This condition is generally considered to be benign because it only occurs during sleep, and responds well to treatment, but 30 % of cases are severe or refractory to treatment.

Different forms:

• familial forms:

*         mutation of one of the genes that code for one of the subunits of the neuronal nicotinic acetylcholine receptor

       -  CHRNA4 on 20q 13.2 - q13.3 (subunit a4)

       -  CHRNB2 on 1q22.13 (subunit ß2)

       -  CHRNA2 on 8p21.2-8q12

* mutation of the HRAS gene on 8q13

* mutation of the KCNT1 gene on 9q34.3

* mutation of the DEPDC5P gene on 22q12

• sporadic forms
• idiopathic forms
• symptomatic forms: for example, in case of type II focal cortical dysplasia.

Clinical presentation: onset before 20 years of age (peak in childhood); stereotyped movements of the limbs, trunk or head occurring during sleep as crises of very short duration; sometimes brief and rapid awakenings (a few seconds)  with frightened  looking eyes and/or vocalization; severe crises last for 20-30 seconds. In case of frequent crises, non-restorative sleep and daytime sleepiness.

Treatment: carbamazepine in low doses; sometimes a nicotine patch. Surgery of the epilesy in case of debilitating or refractory to treatment form.

Anesthetic implications: 

no reported cases; epilepsy

References : 

-        Nobili L, Proserpio P, Combi R, Provini F et al. 
Nocturnal frontal lobe epilepsy. 
Curr Neurol Neurosci Rep 2014 ; 14 : 424-36.

Updated: June 2019