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    <pre style="white-space:pre-line"><code>Il trattamento dellâ€™epilessia in etÃ  pediatrica

Nome del gene                                    Fenotipo/i          Terapia
EreditarietÃ                                      PMSE                Â 
Numero OMIM                                      EIEE, EOEE, WS, DS  Â 

STRADA
AR
*608626

STXBP1
AD (de novo)
*602926

Legenda: AD autosomico dominante; ADEAF epilessia autosomica dominante con caratteristiche uditive; ADNFLE epilessia frontale notturna
autosomica dominante; AR autosomico recessivo; BDZ benzodiazepina; BFNIS crisi infantili neonatali familiari benigne; BFNS crisi neonatali familiari
benigne; CBZ carbamazepina; DS sindrome di Dravet; DS-like sindrome di Dravet-like; EAS sindrome con epilessia-afasia; EE encefalopatia epilettica;
EFMR epilessia limitata alle femmine con associato ritardo mentale; EIEE encefalopatia epilettica prima infanzia; EIMFS epilessia dellâ€™infanzia con
crisi focali migranti; EMA epilessia con assenze miocloniche; EOAE epilessia-assenza ad esordio precoce; EOEE encefalopatia epilettica ad esordio
precoce; FFEVF epilessia focale familiare a foci variabili; FMTLE epilessia familiare del lobo temporale mesiale; GEFS+ epilessia genetica con crisi
febbrili plus; GGE epilessia generalizzata genetica; GoF guadagno di funzione; IS spasmi infantili; KD dieta chetogena; LGS sindrome di Lennox-
Gastaut; LTG lamotrigina; mTOR target del meccanismo della Rapamicina; NMDA N-metil-D-aspartato; OMIM ereditarietÃ  mendeliana nellâ€™uomo
online; OXC oxcarbazepina; PHT fenitoina; PMSE sindrome con epilessia sintomatica, polidramnios e megalencefalia â€“ sindrome di Pretzel; PPI
inibitore dellâ€™interazione proteina-proteina; TPM topiramato; VPA acido valproico; WS sindrome di West; ZNS zonisamide.

84 Allegato</code></pre>
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