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Wśród korzyści wynikających z ustalenia podłoża genetycznego padaczki należy wymienić: zakończenie „diagnostycznej odysei” (nieustanne konsultacje, wielokrotnie powtarzane badania krwi i płynu mózgowo-rdzeniowego, badania neuroobrazowe często wykonywane w znieczuleniu ogólnym, inwazyjna diagnostyka przedoperacyjna). Uwaga koncentruje się na terapii i pomocy dziecku. Możliwe jest prognozowanie dalszego przebiegu choroby. Rodzice mogą uzyskać wsparcie i wiedzę praktyczną od rodziców i opiekunów dzieci z tą samą chorobą w ramach internetowych grup wsparcia lub stowarzyszeń, np. stowarzyszenia rodziców dzieci z zespołem Dravet. Poznanie przyczyny genetycznej choroby pozwala również udzielić rodzicom porady genetycznej dotyczącej ryzyka ponownego wystąpienia choroby u kolejnych dzieci. Niekwestionowaną korzyścią wynikającą z określenia przyczyny choroby jest możliwość celowanego leczenia. Najlepszym przykładem takiej poniekąd celowanej terapii jest terapia zespołu Dravet i innych zespołów związanych z mutacjami w genie SCN1A. U osób obarczonych mutacjami w tym genie przeciwwskazane są blokery kanałów sodowych, tj. karbamazepina lub lamotrygina, zaleca się leczenie kwasem walproinowym, klobazamem, topiramatem i stiripentolem [82, 83]. Podobna sytuacja ma miejsce w przypadku mutacji w genie SLC2A1, gdzie leczeniem z wyboru jest włączenie diety ketogennej.

Aktualnie trwają badania nad zastosowaniem nowych cząsteczek, dedykowanych do leczenia w zależności od uszkodzenia konkretnych genów. Cząsteczki badane obecnie zamieszczono w tabeli 2.3.

Tabela 2.3. Celowane leczenie padaczki w zależności od uszkodzonego genu [84, 85]

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