Screening genetico per l’Epilessia dell’età evolutiva

GENEOMIM FENOTIPO
ADSL608222AD EMR
ALDH7A1107323Pyridoxine-Dependent Epilepsy
ALG13300776EE
ARHGEF9300429EE
ARX300382West Syndrome
ATP1A2182340FHM
ATP1A3182350AHC
ATRX300032X-Linked EMR
CACNA1A601011EE, FHM with Ataxia
CACNA1D114206Febrile Seizures, ASD
CACNA1H607904Childhood Absence Seizures, GGE
CACNB4601949Episodic Ataxia, Juvenile Myoclonic Epilepsy, GGE 
CDKL5300203EE
CHD2602119EE
CHRNA2118502ADNFLE
CHRNA4118504ADNFLE
CHRNB2118507ADNFLE
CLCN2600570GGE
CNKSR2300724LKS, ESES
CPA6609562FFE
DEPDC5614191Focal Epilepsy, FFEVF
DNM1602377EE
EEF1A2602959EIEE, AD MR
FASN600212ID, LGS, EE
FOXG1164874West Syndrome
GABBR1603540EE
GABBR2607340EE
GABRA1137160Dravet
GABRA5137142EE
GABRB3137192EE, Febrile Seizures, GEFS+
GABRD137163Dravet, GEFS+
GABRG2137164Dravet, GEFS+
GAMT601240Creatine Deficiency
GATM602360Creatine Deficiency
GNAO1139311EE
GRIN1138249EE
GRIN2A138253Focal Epilepsy, ESES
GRIN2B138252West Syndrome
GRIN2D602717 
HCN1602780EE
HDAC4605314EE
HNRNPU602869EE
HUWE1300697EMR (LKS like phenotype)
IQSEC2300522EE
KCNA2176262EE
KCNB1600397EIEE
KCND2605410Seizures, Autism
KCNH5605716EE
KCNQ2602235BFNC, EE
KCNQ3602232BFNC
KCNT1608167Focal Epilepsy
KCTD7611725EE
KIAA2022300524X-Linked MR
LGI1604619Focal Epilepsy, ADLTE
MECP2300005EE, Rett Syndrome
MEF2C600662West Syndrome
MTOR601231EE
NPRL2607072Focal Epilepsy, FFEVF
NPRL3600928Focal Epilepsy, FFEVF
NRXN1600565Pitt-Hopkins-like Syndrome
PCDH19300460EFMR
PIGA311770X-Linked EE
PIGO614730GPI Anchor Deficiency
PIGT610272GPI Anchor Deficiency
PIK3AP1607942West Syndrome
PIK3R2603157MPPHS
PLCB1607120MMPSI
PNKP605610NEE/OS
PNPO603287Pyridoxine-Dependent Epilepsy
POLG174763OCCIP, Alper’s Syndrome, CSE, SV Tox
PRRT2614386PKD, PKD+BFIS, BFIS
PURA600473EE
RELN600514ADLTE
SCN1A182389Dravet, FHM, GEFS+ MMPSI
SCN1B600235Dravet, GEFS+
SCN2A182390BFNC, EE
SCN8A600702EE
   
SLC12A5606726EIEE, GGE
SLC13A5608305EIEE
SLC1A2600300EE
SLC25A22609302EE
SLC2A1138140EOAE, GGE, PED
SLC35A2314375EE
SLC35A3605632EE
SLC6A1137165EE, MAE/Doose Syndrome
SLC6A8300036Creatine Deficiency
SLC9A6300231ID, Epilepsy
SMARCA2600014NBS
SPTAN1182810West Syndrome
ST3GAL3606494EIEE, AR MR
STX1B601485GEFS+
STXBP1602926EE
SYNGAP1603384EE
SZT2615463EIEE
TBC1D24613577EE, MMPSI
TCF4602272Pitt Hopkins Syndrome
UBE3A601623Angelman Syndrome
WWOX605131EIEE
ZDHHC9300646X-Linked ID, Rolandic Epilepsy

Lista delle abbreviazioni:

ADLTE: Epilessia del lobo temporale laterale autosomica dominante
ADNFLE: Epilessia del lobo frontale notturno autosomica dominante
AHC: Hemiplegia alternante dell’infanzia
AD: Autosomica dominante
BFIS: convulsioni infantili familiari benigne
BFNC: convulsioni neonatali familiari benigne
CSE: Convulsive Status Epilepticus
CSWS: picchi e onde continui durante il sonno lento
EE: Encefalopatia epilettica
EFMR: epilessia con ritardo mentale limitata alle femmine
EIEE: Encefalopatia epilettica infantile precoce
EMR: Epilessia con ritardo mentale
EOAE: Epilessia di assenza precoce
ESES: stato elettrico Epilettico durante il sonno
FFE: epilessia focale familiare
FFEVF: epilessia focale familiare con foche variabili
FHM: emicrania emiplegica familiare
GEFS +: Epilessia genetica generalizzata con convulsioni febbrili plus
GGE: Epilessia generalizzata genetica
GPI: glicosilfosfatidilinositolo
ICCA: PKD combinato con convulsioni infantili
ID: Disabilità intellettuale
LGS: sindrome di Lennox-Gastaut
LKS: Sindrome di Landau – Kleffner
MAE: epilessia mioclonica-astatica
MPPHS: Sindrome da megalencefalia-polimicrogiria-polidattilia-idrocefalo
MMPSI: Sequestri parziali migratori maligni dell’infanzia
NBS: Sindrome di Nicolaides-Baraitser
NEE: Encefalopatia epilettica neonatale
OCCIP: convulsioni occipitali
OS: Sindrome di Ohtahara
PED: discinesia da sforzo parossistico
PKD: discinesia kinesigenica parossistica
SV Tox: Tossicità epatica indotta da sodio valporato
West = Sindrome di West