Skip to main content

Table 3 The 16 patients in whom clinical management was changed after the genetic diagnosis

From: Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

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