Table 2.

List of patients with variants found in genes previously associated with neurodevelopmental phenotypes

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