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

Table 1 Clinical data of the three patients

Patient	Patient 1	Patient 2	Patient 3
Current age	2 years	4 years	2 years
Age of onset	2 months	2 months	80 days
Gender	F	F	F
Personal history	G5P2, full term and smooth delivery, BW 3500 g	G1P1, full term and smooth delivery, BW 2450 g,	G1P1, full term and smooth delivery, BW 3395 g
Pregnancy history	Diabetes mellitus with good control of blood sugar	Normal	Upper respiratory tract infection during early pregnancy but without any medication
Familial history	Normal	Normal	Normal
Epilepsy	PS, TCS, SS	TCS, TS, CS, SS	TCS, CS
EEG	F, H	H, M	M
MRI	Normal	Wide anterior sulcus of bilateral frontotemporal lobe	Wide anterior sulcus of bilateral frontotemporal lobe
AED	VPA, TPM, OCX, ACTH, MP	VPA, NZ, TPM, ACTH, MP	LEV, ACTH
VEP	abnormal	abnormal	normal
Intellectual disability	Severe	Severe	Severe
Seizure control	Undone	Undone	Undone

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

ISSN: 1824-7288