TY  - CHAP
M1  - Book, Section
TI  - Severe Myoclonic Epilepsy of Infancy (Dravet Syndrome)
A1  - Dravet, Charlotte
A2  - Duchowny, Michael
A2  - Cross, J. Helen
A2  - Arzimanoglou, Alexis
PY  - 2017
T2  - Pediatric Epilepsy
AB  - Recognized  as  a  syndrome  by  the  International  League  Against  Epilepsy  in  the  last  classification,1  severe  myoclonic  epilepsy  of  infancy  (SMEI)  has  been  placed  among  the  "epileptic  encephalopathies",  defined  as  conditions  in  which  the  epileptiform  abnormalities  are  believed  to  contribute  to  a  progressive  disturbance  in  cerebral  function,  whether  seizures  are  generalized,  localized,  symptomatic,  idiopathic  or  cryptogenic.2  Since  20013  its  etiology  is  regarded  to  be  genetic  as  the  majority  of  affected  patients  carry  a  mutation  in  the  sodium-channel  gene  SCN1A.  However,  it  remains  unproven  whether  the  cognitive  decline  observed  in  the  first  stages  of  the  disease  is  a  consequence  of  the  epilepsy.  In  this  new  scheme,  SMEI  is  renamed  "Dravet  syndrome"  because  of  the  lack  of  myoclonic  seizures  in  many  patients.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1138410062
ER  -