    
  

  


 -       , ,  , , ,       .   ,  , , ,  ,     .





    



  

  



  ,2024

  ,2024



ISBN978-5-0064-1567-6

     Ridero


   



     



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    _6_ _26.06.2024_



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- 







2024

 -      , ,  , , ,      .

   ,  , , ,  ,    .



:



..⠖ - . , . . .  ,          ..., 

..⠖ . . , -,         ...



:



..ࠖ - . ,       ...  Π  ...   ( )



.. - . ,   ,      ..    Π      ..    



..ࠖ . . , . . .      ....







 ,  ,         (  2).       .       .

 -      , ,       .




     


  ,     ,    ,  - ;  ;  ; ; ;   .

  ,      .        - ,  ,    , ,    ,    (,         ).

     .

     ,        .    ,      .

       ,     ,    .

     ,               .    , , CDKL5, MeCP2, PCDH19, STXBP1.  ,  , ,         . , ,   , , ,    ,     ,         .

             .           ()    .

  ILAE [23],        :

KCNQ2-  /KCNQ2-developmental and epileptic encephalopathy (KCNQ2-DEE)

- (ALDH7A1)   /Pyridoxine-dependent (ALDH7A1) developmental and epileptic encephalopathy (PD-DEE)

 ()  5 - (PNPO) -   /Pyridox (am) ine 5?-phosphate deficiency (PNPO) developmental and epileptic encephalopathy (P5PD-DEE)

CDKL5-  /CDKL5-developmental and epileptic encephalopathy (CDKL5-DEE)

 19 / Protocadherin 19clustering epilepsy (PCDH19 clustering Epilepsy)

    1/Glucose transporter 1deficiency syndrome (GLUT1DS)

 -/SturgeWeber syndrome (SWS)

   /Gelastic seizures with hypothalamic hamartoma (GS-HH)

  ,  ,        .




     


  ,    ILAE 2022. [22], :   ,   .

      :

1.   

 ()  /Self-limited (familial) neonatal epilepsy (SeLNE)

 ()  /Self-limited (familial) infantile epilepsy (SeLIE)

 ()   /Self-limited (familial) neonatal and infantile epilepsy (SeLFNIE)

2.   

  /Myoclonic epilepsy ininfancy (MEI)

3.  ,    ,   ().

    /Genetic epilepsy with febrile seizures plus (GEFS+)

4.    /      

    /Early infantile developmental and epileptic encephalopathy (EIDEE)

   /Infantile epileptic spasm syndrome (IESS)

 /Dravet syndrome(DS)

    /Epilepsy ofinfancy with migrating focal seizures (EIMFS)

  /        

KCNQ2-  /KCNQ2-developmental and epileptic encephalopathy (KCNQ2-DEE)

- (ALDH7A1)   /Pyridoxine-dependent (ALDH7A1) developmental and epileptic encephalopathy (PD-DEE)

 ()  5 - (PNPO) -   /Pyridox (am) ine 5?-phosphate deficiency (PNPO) developmental and epileptic encephalopathy (P5PD-DEE)

CDKL5-  /CDKL5-developmental and epileptic encephalopathy (CDKL5-DEE)

 19 / Protocadherin 19clustering epilepsy (PCDH19 clustering Epilepsy)

    1/Glucose transporter 1deficiency syndrome (GLUT1DS)

 -/SturgeWeber syndrome (SWS)

   /Gelastic seizures with hypothalamic hamartoma (GS-HH)

      :

1.      

 ()  /Self-limited (familial) neonatal epilepsy

 ()   /Self-limited (familial) infantile epilepsy

 ()    /Self-limited (familial) neonatal and infantile epilepsy

    /Genetic epilepsy with febrile seizuresplus

  /Myoclonic epilepsy ininfancy

2.    /      

    /Early infantile developmental and epileptic encephalopathy (EIDEE)

   /Infantile epileptic spasm syndrome (IESS)

 /Dravet syndrome(DS)

    /Epilepsy ofinfancy with migrating focal seizures (EIMFS)

3.   

KCNQ2-  /KCNQ2-developmental and epileptic encephalopathy (KCNQ2-DEE)

- (ALDH7A1)   /Pyridoxine-dependent (ALDH7A1) developmental and epileptic encephalopathy (PD-DEE)

 ()  5 - (PNPO) -   /Pyridox (am) ine 5?-phosphate deficiency (PNPO) developmental and epileptic encephalopathy (P5PD-DEE)

CDKL5-  /CDKL5-developmental and epileptic encephalopathy (CDKL5-DEE)

 19 / Protocadherin 19clustering epilepsy (PCDH19 clustering Epilepsy)

    1/Glucose transporter 1deficiency syndrome (GLUT1DS)

 -/SturgeWeber syndrome (SWS)

   /Gelastic seizures with hypothalamic hamartoma (GS-HH)




     





 ()  /Self-limited (familial) neonatal epilepsy (SeLNE)




 ()  /Self-limited (familial) neonatal epilepsy (SeLNE)  - ,    ,     -     c   .

,     :

C ()  

   

   c

   

  

  

 



 2   :

 ()  

 (, )  

:

   5,3100000 [21].    .



       KCNQ2,   KCNQ3 SCN2A   .       de novo  .

 

   ,    .  ,   , .

 ,  ,     .

c    2-7-  ,   -  - ,    .       ,      .       ,   , ,  .

        - .       ,         .     ,    ,      .



          .

         519 (  ),    (12)      ,   , ,     .            .

        ,  .          ,     .

   .

  SeLNE[1,23].

           - .

         .    ,  ,      .

  ()         ,  ,  ,   - ;     ,    ,   ,    .

  ,    (  KCNQ2  KCNQ3);   ,    ;       ;     6- ;  ;          .

 

     :

 ,  - , ,   , , ,  ,  .

  ,     .

    .

 ()    ()       ,      .      ,     de novo   .     ,         ,  .   ()   -         .      , ,     ,      .

  ()          .



  ,        .      ,  , , ,  堖   .    6,  12,     .



   6,    6.          .        .   ,           .       .    , ,   -  , ,    . Ӡ           (, ,        ,    ).

               .          100   .   ,    

     .     ,    .




 ()  /Self-limited (familial) infantile epilepsy (SeLIE)




 ()  /Self-limited (familial) infantile epilepsy (SeLIE)  - ,    (    ,  , ,   ,   - )   c   .

,     :

   

   

   

    



 2   :

 () 

 ()  

:

 SeLIE  79%   ,   2,  14,2 100000[1].



-     (  ).  ()         PRRT2.

  ,   ,  2, 1619.      ,  ,          .  ,   ,    .  ⠖     ,    SeLIE      PRRT2 16.

 ()      ()  .         ,   ()   ,     SCN2A.

 

    ,      .

   ,    .  ,  ,     . c, ,   320  6.

   ,   1   .       .

  SeLIE[1,23].

       (     ,   ,     ,   - ).    (<3).

  ,  ,  ,      (  ),      ,   ,   .

 

     :

    頖   .

  .

    

      EIMFS        .

       .

       ,  .



   ,          , ,    .



    ,    1  .   ,           .

       . Ӡ  ( PRRT2)       .                .      .     ,    .




 ()   /Self-limited (familial) neonatal and infantile epilepsy (SeLFNIE)




 ()   /Self-limited (familial) neonatal and infantile epilepsy (SeLFNIE)  - ,                -     c   .

,     :

    

    

    



 2 :

 ()   

 ()   



 .



-     SCN2A    KCNQ2.        de novo.

 

          ,     .

   ,    .  ,  ,     .

c     ,    1113.

     .       ,   1224,    

  ,    -. Ӡ     .   34,   .

 [1,23].

            - .

   ,  ,     ,      .

 

     :

SeLNE

SeLIE

  

   

      SeLNE SeLIE   ,            ,  .



   ,       .   , ,    .

                [15].



    1224,    .    ,    ,    .                .




     





  /Myoclonic epilepsy ininfancy (MEI)




  /Myoclonic epilepsy ininfancy (MEI) --     ,        3   .

,     :

   

   

   

   

   

Benign myoclonic epilepsy ininfancy

Self-limited myoclonic epilepsy ininfancy

Pharmacoresponsive myoclonic epilepsy ininfancy

 

     C. Dravet M. Bureau 1981[11].

   7,     ,     ,    .     , 2  912    .   ,      .

 C Dravet and M Bureau,  PM Jeavons (1977)          .       :  , - ,   ,    ,      ,      [13].



MEI  1,1%         [21]. ,     ,      - .      ,  .         ,       .



       ,    .     ,      .        30% .

     ,    SLC2A1 HCN4.

      -  -  3 ,  13   .



ILAE  MEI       [22].

  (  )  ( ) MEI.

    ,  -  .

       :

1.    .    ,        .    ,  ,       .

2.    .   ,  ,    .

3.      ,     .

4.     -  ( 16p13),      ,      .

 

      46 23( 5) ,    12,  618.  ,      ,    12.       2:1.      6 5,       , ,  ;     ,  ,  ,  .

   MEI  ,      ,    ( ).    20%    ,         .

 -    .

Ӡ    ,   ,     .    13,   10.    ,   .     ,   . Ѡ     .      ,   ,       .     .  ,        .    ,     .        ,   .       20120        .    .

       .      ,  ,   , ࠖ  .     ,   ,   .

       ,     .

  MEI           . -   .     30% .    ,   ,      .

   MEI :

 ,   

 ,   , 

 ,      

/   -        

   .         .



       .      .   -    .     -,   -  .

     .      ;      -, - ,     III  .      - .

     ,   ( -),   ,  ,  - -, c   3.

 ()     .

   MEI  :

   

     

     - -   3

    

   .

  ,  .       , .           .

 [1,23].

      .

     ,  ,        .

 [1]

     :

 

     (IESS).    ,   ,  .

  (DS)      .  ,   SCN1A   .            .

  (LGS)   ,     ( , , ),  -  .

 -  (EMAtS)     ,    (,  ,   ,  - , - ),     .

    堖    ,     .

       ,    .     ,   .

    (GLUT1DS)     ,   , .

   ( ,  -,     ,   3,    ).      ,   ,    .

 

       .  ,        .  12,     .  -            .

      (-)    .

     ,   ,  .

  (shuddering attacks)    ,   ,   .

   .  ,   ,     ,   . MEI,  ,   6    ,     .

 .

  .

-.



      34    ,     ,   .          .      .

    .         .    .



      . Ӡ    56,  .            .   ,     ,     . Ӡ      .     ,     ,   .     ,     .

      ,    .

 ,      ,   ,  .     .  ,  1015        (  ,   - ).

   MEI        .              .




 ,   ,    ,   ()





    /Genetic epilepsy with febrile seizures plus (GEFS+)




    /Genetic epilepsy with febrile seizures plus (GEFS+)     -    ,           .




  .


   .

   ,     (https://www.litres.ru/book/aleksey-kotov-330892/epilepticheskie-sindromy-perioda-novorozhdennosti-i-m-70846552/)  .

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