TY  - CHAP
M1  - Book, Section
TI  - Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
A1  - Derry, Christopher
A1  - Scheffer, Ingrid E.
A2  - Duchowny, Michael
A2  - Cross, J. Helen
A2  - Arzimanoglou, Alexis
PY  - 2017
T2  - Pediatric Epilepsy
AB  - Autosomal  dominant  nocturnal  frontal  lobe  epilepsy  (ADNFLE)  is  a  familial  focal  epilepsy  syndrome  characterized  by  frontal  lobe  seizures  occurring  predominantly  during  light  sleep.  Although  not  a  common  condition,  it  is  increasingly  recognized,  with  over  100  families  reported.1  It  was  first  described  in  1994  in  families  from  Australia,  Canada,  and  the  United  Kingdom,2  and  subsequently  became  the  first  human  epilepsy  for  which  an  underlying  genetic  defect  was  identified.  The  first  mutation  to  be  discovered  was  in  the  CHRNA4  gene  encoding  the  α4  subunit  of  the  nicotinic  acetylcholine  receptor  (nAChR),3  a  ligand-gated  ion  channel.  The  subsequent  discovery  of  further  nAChR  subunit  gene  mutations  in  ADNFLE,4,5,6  along  with  ion  channel  gene  mutations  in  various  other  familial  epilepsy  syndromes,  led  to  the  concept  of  channelopathies  as  the  fundamental  basis  to  many  epilepsy  syndromes.7  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1138410789
ER  -