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Table 1 Clinical data of the three patients

From: Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders

PatientPatient 1Patient 2Patient 3
Current age2 years4 years2 years
Age of onset2 months2 months80 days
GenderFFF
Personal historyG5P2, full term and smooth delivery, BW 3500 gG1P1, full term and smooth delivery, BW 2450 g,G1P1, full term and smooth delivery, BW 3395 g
Pregnancy historyDiabetes mellitus with good control of blood sugarNormalUpper respiratory tract infection during early pregnancy but without any medication
Familial historyNormalNormalNormal
EpilepsyPS, TCS, SSTCS, TS, CS, SSTCS, CS
EEGF, HH, MM
MRINormalWide anterior sulcus of bilateral frontotemporal lobeWide anterior sulcus of bilateral frontotemporal lobe
AEDVPA, TPM, OCX, ACTH, MPVPA, NZ, TPM, ACTH, MPLEV, ACTH
VEPabnormalabnormalnormal
Intellectual disabilitySevereSevereSevere
Seizure controlUndoneUndoneUndone
  1. PS focal seizure, TS tonic seizure, TCS tonic-clonic seizure, CS clonic seizure, SS spastic seizure, MS myoclonic seizure, N normal, H high arrhythmia, F focal discharge, M multifocal discharge, PHE phenobarbital, LEV levetiracetam, VPA sodium valproate, TPM topiramate, VBG aminohexenoic acid, KD ketogenic diet, NZP nitrodiazepam, LTG lamotrigine, OXC oxcarbazepine, MP Methylprednisolone, DXM Dexamethasone, ACTH adrenocorticotropin, CBZ carbamazepine