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 |