"When epilepsy looks like a movement disorder"
Definition
"Brief focal motor szs w/ hyperkinetic or asymmetric tonic/dystonic features occurring predominantly from sleep"
Aka: ADNFLE, NFLE
*Exclude, if mainly awake
History
1981: Lugaresi and Cirignotta→ 1st report
Pathophysiology
-Paroxysmal network disorders
(szs, DTN, ATX, tremor, and DKN)
Epidemiology
-First 2 decades of life
-Male predominance
-ID/ behav issues, otherwise everything wnl
Genetics
-ACh receptor (CHRNA4 > CHRNB2 = CHRNA2)
-GATOR1 complex (DEPDC5, NPRL2 or NPRL3)
-Na-activated K channel (KCNT1)
>Most severe phenotype
-Rare: PRIMA1
Differentials
