Early Infantile Epileptic Encephalopathy With Suppression Bursts(Developmental and epileptic encephalopathy) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked recessive mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | KCNQ2/3785 | potassium voltage-gated channel subfamily Q member 2 | 20q13.33 | Chr20, NC_000020.11 (63400208..63472655, complement) |
72448 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KCNH5/27133 | potassium voltage-gated channel subfamily H member 5 | 14q23.2 | Chr14, NC_000014.9 (62699464..63045458, complement) |
345995 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SCN1A/6323 | sodium voltage-gated channel alpha subunit 1 | 2q24.3 | Chr2, NC_000002.12 (165984641..166149161, complement) |
164521 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SCN8A/6334 | sodium voltage-gated channel alpha subunit 8 | 12q13.13 | Chr12, NC_000012.12 (51591233..51812864) |
221632 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | STXBP1/6812 | syntaxin binding protein 1 | 9q34.11 | Chr9, NC_000009.12 (127611912..127696029) |
84118 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SPTAN1/6709 | spectrin alpha, non-erythrocytic 1 | 9q34.11 | Chr9, NC_000009.12 (128552587..128633662) |
81076 nt | 60 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | SLC25A22/79751 | solute carrier family 25 member 22 | 11p15.5 | Chr11, NC_000011.10 (790475..798281, complement) |
7807 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | CACNA2D2/9254 | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | 3p21.31 | Chr3, NC_000003.12 (50362613..50504244, complement) |
141632 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | GNAO1/2775 | G protein subunit alpha o1 | 16q13 | Chr16, NC_000016.10 (56191489..56357444) |
165956 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | PIGP/51227 | phosphatidylinositol glycan anchor biosynthesis class P | 21q22.13 | Chr21, NC_000021.9 (37065364..37073071, complement) |
7708 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | ARHGEF15/22899 | Rho guanine nucleotide exchange factor 15 | 17p13.1 | Chr17, NC_000017.11 (8310241..8322511) |
12271 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | HCN1/348980 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | 5p12 | Chr5, NC_000005.10 (45254948..45696380, complement) |
441433 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | ST3GAL3/6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | 1p34.1 | Chr1, NC_000001.11 (43707536..43931159) |
223624 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | CDKL5/6792 | cyclin dependent kinase like 5 | Xp22.13 | ChrX, NC_000023.11 (18425608..18653629) |
228022 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | GOT2/2806 | glutamic-oxaloacetic transaminase 2 | 16q21 | Chr16, NC_000016.10 (58707131..58734316, complement) |
27186 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | KCNB1/3745 | potassium voltage-gated channel subfamily B member 1 | 20q13.13 | Chr20, NC_000020.11 (49363877..49483362, complement) |
119486 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | SNAP25/6616 | synaptosome associated protein 25 | 20p12.2 | Chr20, NC_000020.11 (10218830..10307418) |
88589 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | SCN2A/6326 | sodium voltage-gated channel alpha subunit 2 | 2q24.3 | Chr2, NC_000002.12 (165239414..165392304) |
152891 nt | 31 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | CACNA1E/777 | calcium voltage-gated channel subunit alpha1 E | 1q25.3 | Chr1, NC_000001.11 (181317699..181808084) |
490386 nt | 52 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | KCNC2/3747 | potassium voltage-gated channel subfamily C member 2 | 12q21.1 | Chr12, NC_000012.12 (75040078..75209839, complement) |
169762 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | BSCL2/26580 | BSCL2 lipid droplet biogenesis associated, seipin | 11q12.3 | Chr11, NC_000011.10 (62690262..62709537, complement) |
19276 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | ANO4/121601 | anoctamin 4 | 12q23.1 | Chr12, NC_000012.12 (100717261..101128641) |
411381 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | UBA5/79876 | ubiquitin like modifier activating enzyme 5 | 3q22.1 | Chr3, NC_000003.12 (132654430..132679794) |
25365 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | GRIA3/2892 | glutamate ionotropic receptor AMPA type subunit 3 | Xq25 | ChrX, NC_000023.11 (123184278..123490915) |
306638 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||