Table 3.

The 16 patients in whom clinical management was changed after the genetic diagnosis

Patient ID	Gene	Disease	Medical treatment
35	SCN8A	Epileptic encephalopathy, early infantile, 13	Na channel blocker incluidng oxcarbazepine and phenytoin
71	PREPL	Myasthenic Syndrome, Congenital, 22	Pyridostigmine
159	SLC2A1	GLUT1 Deficiency Syndrome 1	Ketogenic diet
228	SCN8A	Epileptic encephalopathy, early infantile, 13	Na channel blocker incluidng oxcarbazepine and phenytoin
269	KCNQ2	Epileptic encephalopathy, early infantile, 7	Na channel blocker incluidng oxcarbazepine and phenytoin
278	CPS1	Carbamoylphosphate synthetase I deficiency	Low protein diet
285	SCN1A	Epileptic encephalopathy, early infantile, 6	Valprotic acid, topiramate
314	SCN2A	Epileptic encephalopathy, early infantile, 11	Valprotic acid, topiramate
363	TH	Segawa syndrome, recessive	Levodopa
402	ASS1	Citrullinemia	Low protein diet
442	KCNQ2	Epileptic encephalopathy, early infantile, 7	Na channel blocker incluidng oxcarbazepine and phenytoin
518	PRRT2	Seizures, benign familial infantile, 2	Oxcarbazepin
519	SCN1A	Febrile seizures, familial, 3A	Valprotic acid, topiramate
229	NF1	Neurofibromatosis Type 1	Selumetinib
257	TOR1A	Dystonia-1, torsion	Deep brain stimulation
288	ARSA	Metachromatic leukodystrophy	Bone marrow transplantation candidate
383	NF1	Neurofibromatosis Type 1	Selumetinib