Table 2. Genetic models of epilepsy.
| Functional target | Human gene | Associated syndrome | Species | Animal model | References |
| ADPEAF: Autosomal dominant partial epilepsy with auditory features; AE: Absence epilepsy; BFNS: Benign familial neonatal seizures; CLN2: Neuronal ceroid lipofuscinosis type 2 disease; DEE: Developmental and epileptic encephalopathy; DS: Dravet syndrome; EAS: Epilepsy-aphasia spectrum; EAST/SeSAME: Epilepsy, ataxia, sensorineural deafness and renal tubulopathy; EIMFS: Epilepsy of infancy with migrating focal seizures; GEFS+: Genetic epilepsy with febrile seizures plus; JME: Juvenile myoclonic epilepsy; MAE: Myoclonic-atonic seizures; NFLE: Nocturnal frontal lobe epilepsy; PDE: Pyridoxine dependent epilepsy; PME: Progressive myoclonus epilepsy; NHPs: Non-human primates. | |||||
| Voltage-gated sodium channel | SCN1A | GEFS+; DS | Rodents | scn1a +/− scn1a RX/+ | Cao et al., 2012; Yu et al., 2006 |
| Zebrafish | Didys552 scn1lab mutant scn1lab morphant | Baraban et al., 2013; Tiraboschi et al., 2020; Zhang et al., 2015 | |||
| Xenopus laevis | Oocyte Injection | Barela et al., 2006 | |||
| Drosophila | Paralytic para | Sun et al., 2012 | |||
| SCN2A | BFNS; DEE; DS | Rodents | scn2a +/− scn2a +/RX | Ogiwara et al., 2018 | |
| SCN8A | DEE | Rodents | N1768D/+ R1872W/+ | Bunton-Stasyshyn et al., 2019 | |
| SCN1B | GEFS+; DEE; DS | Rodents | DEE52 scn1b null mice | Brackenbury et al., 2013 | |
| Potassium channel | KCNB1 | DEE | Rodents | G279R/+ kcnb1 −/− | Hawkins et al., 2021; Speca et al., 2014 |
| KCNQ2 | BFNS; DEE | Rodents | kcnq2 +/− kcnq2 −/− | Brun et al., 2022 | |
| Xenopus laevis | Oocyte Injection | Hunter et al., 2006 | |||
| KCNQ3 | BFNS | Rodents | G311V/+ | Singh et al., 2008 | |
| Zebrafish | kcnq3 morphants | Chege et al., 2012 | |||
| KCNT1 | EIMFS; NFLE; DEE | Rodents | kcnt1 −/− Y796H/+ | Quraishi et al., 2020; Shore et al., 2020 | |
| Xenopus laevis | Oocyte Injection | Barcia et al., 2012 | |||
| KCNH1 | DEE | Xenopus laevis | Oocyte Injection | Simons et al., 2015 | |
| KCNJ10 | EAST/ SeSAME | Zebrafish | kcnj10a morphant | Mahmood et al., 2013; Zdebik et al., 2013 | |
| Xenopus laevis | Oocyte Injection | Bockenhauer et al., 2009 | |||
| HCN1 | GEFS+; DEE; DS | Rodents | hcn1 −/− | Huang et al., 2009 | |
| HCN2 | AE | Rodents | hcn2 ap/ap | Chung et al., 2009 | |
| Voltage-gated calcium channel | CACNA1A | AE | Rodents | cacna1a −/− | Miao et al., 2020 |
| Zebrafish | cacna1a morphants | Gawel et al., 2020 | |||
| Ionotropic γ-aminobutyric acid receptor |
GABRA1 | GEFS+; JME; AE; DS | Rodents | gabra1 +/− | Arain et al., 2012 |
| GABRB3 | DEE; AE; DS | Rodents | gabrb3 +/− N328D/+ D120N/+ N110D/+ | Nwosu et al., 2023; Qu et al., 2020; Qu et al., 2023; Shi et al., 2019 | |
| GABRG2 | GEFS+; JME; DS; AE | Rodents | gabrg2 +/− Q390X/+ | Kang et al., 2015; Reid et al., 2013 | |
| Xenopus laevis | Oocyte Injection | Baulac et al., 2001 | |||
| γ-aminobutyric acid transporter/ Glucose transporter receptor | SLC6A1 | MAE | Rodents | A288V/+ S295L/+ | Shen et al., 2024 |
| SLC12A5 | EIMFS | Rodents | kcc2 +/− | Puskarjov et al., 2014 | |
| Zebrafish | kcc2a/kcc2b mutant | Stödberg et al., 2015 | |||
| Drosophila | Kazachoc kcc | Hekmat-Scafe et al., 2006 | |||
| GRIA4 | AE | Rodents | gria4 −/− | Paz et al., 2011 | |
| Nicotinic acetylcholine receptor | CHRNA4 | NFLE | Rodents | S284L/+ S252F/+ +L264/+ | Klaassen et al., 2006; Zhu et al., 2008 |
| Xenopus laevis | Oocyte Injection | Weltzin et al., 2016 | |||
| CHRNB2 | NFLE | Rodents | V287L/+ | Xu et al., 2011 | |
| Xenopus laevis | Oocyte Injection | Weltzin et al., 2016 | |||
| C. elegans | arc-2 mutant | Jospin et al., 2009 | |||
| N-methyl-D-aspartate receptor | GRIN2A | EAS | Rodents | grin2a +/− grin2a −/− | Camp et al., 2023; Strehlow et al., 2019 |
| GRIN2B | DEE | Xenopus laevis | Oocyte Injection | Lemke et al., 2014 | |
| Syntaxin/Syntaxin binding protein | STX1B | GEFS+ | Rodents | stx1b +/− | Mishima et al., 2021 |
| Zebrafish | stx1b morphant | Schubert et al., 2014 | |||
| STXBP1 | DEE; DS | Rodents | stxbp1 +/− | Miyamoto et al., 2019 | |
| NHPs | STXBP1-E | Lu et al., 2022 | |||
| Zebrafish | stxbp1b mutant | Grone et al., 2016 | |||
| C. elegans | munc18-1 mutant | Zhu et al., 2020 | |||
| Synapse transmission | LGI1 | ADPEAF | Zebrafish | lgi1a/lgi1b morphant | Teng et al., 2010; Teng et al., 2011 |
| Neuronal migration; axonal outgrowth | PK1 | PME | Rodents | pk1 +/− pk2 +/− pk2 −/− R104Q/+ | Ban et al., 2022; Tao et al., 2011 |
| Zebrafish | pk1a morphant | Mei et al., 2013 | |||
| Drosophila | pk sple1 /pk sple1 | Tao et al., 2011 | |||
| Dynein-binding protein | LIS1 | Lissencephaly | C. elegans | lis-1 mutant | Williams et al., 2004 |
| Cyclin-dependent kinase | CDKL5 | DEE | Rodents | cdkl5 +/− | Sampedro-Castañeda et al., 2023 |
| Gene transcription modification | CHD2 | EMA; DEE; DS | Zebrafish | chd2 morphant | Gawel et al., 2019 |
| E3 ubiquitin ligase | KIAA1323 | DEE | Zebrafish | mind bomb mutant | Hortopan et al., 2010a |
| Lysine catabolism | ALDH7A1 | PDE | Rodent | aldh7a1 +/− aldh7a1 −/− | Al-Shekaili et al., 2020 |
| Zebrafish | aldh7a1 mutant | Pena et al., 2017 | |||
| Tripeptidyl peptidase 1 | TPP1 | CLN2 | Zebrafish | tpp1 mutant | Mahmood et al., 2013 |