From: Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
Number | Sex | Age | Clinical presentation | Other |
---|---|---|---|---|
1 | M | 5 months | Epileptic of unknown cause, infantile spasm, developmental delayed |  |
2 | M | 11 years | First episode at 9 months, secondary seizure, | Family history: Father, first seizure at 20 years; grandma’s brother of proband: twitching history |
3 | F | 7 months | Epileptic of unknown cause, intermittent convulsion for 3 months, sometimes a daze |  |
4 | F | 7 years | Epileptic of unknown cause, developmental delayed, low muscle tone | Â |
5 | F | 10 years | Epileptic of unknown cause for once, hypophrenia, epilepsy continued treatment, white spots on the body and red pimple on the face, suspected tuberous sclerosis | Â |
6 | F | 1 year and 8 months | Epilepsy, limb spasm, and eyes turned up during seizures | Â |
7 | F | 2 months and 12 days | intermittent convulsion for 1 week, sometimes more than ten times a day, abnormal electroencephalogram (EEG), MRI normal | Previous investigations included: MRI and EEG |
8 | F | 1 years | Epileptic of unknown cause, intermittent convulsion for 3 years, developmental delayed |  |
9 | M | 6 months and 18 days | Seizures, infantile spasms, developmental delays, obesity | Â |