Table 2.
Proband | Gene | Protein | NM number | Variant: genomic coordinates | cDNA change | Protein change | Gene-disease association |
---|---|---|---|---|---|---|---|
4 | HCN1 | Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1 | NM_021072.3 | 5:45396665 | c.1159G > T | p.Ala387Ser | Early infantile epileptic encephalopathy 24 |
8 | SCN1A | Sodium Channel Protein Type I Subunit Alpha | NM_001165963.1 | 2:166866266 | c.3965C > G | p.Arg1322Thr | Dravet syndrome |
10 | TCF4 | Transcription Factor 4 | NM_001243236.1 | 18:52901827 | c.958delC | p.Gln320Ser_fs8X | Pitt–Hopkins syndrome |
11 | GRIN2B | Glutamate receptor ionotropic, NMDA 2B | NM_000834.3 | 12:13764782 | c.1657C > A | p.Pro553Thr | Autosomal Dominant Mental Retardation 6; Early infantile epileptic encephalopathy 27 |
17 | SLC6A1 | Solute Carrier Family 6 Member 1 | NM_003042.3 | 3:11067528 | c.919G > A | p.Gly307Arg | Myoclonic-atonic epilepsy and schizophrenia |