TABLE 1.
Clinical data in this study.
| Age of seizure onset | Sex | Clinical manifestation | Gene mutation | Zygotic state | Gene sequencing method | Inheritance | Reported | Head MRI | Treatment |
|---|---|---|---|---|---|---|---|---|---|
| 4 years | F | GTCS, partial tonic, partial tonic–clonic | c.5035C>T | Het | WES | De novo | Yes | Normal | VPA |
| R1679* | |||||||||
| 4 years | F | GTCS (10–15 min), partial tonic | c.5035C>T | Het | WES | De novo | Yes | Normal | VPA |
| R1679* | |||||||||
| 40 days | M | GTCS, eyelid myoclonic, infantile spasm | c.4173dup | Het | WES | De novo | Yes | Less cerebral white matter | PB → VPA, TPM, LTG, ACTH, KD |
| Q1392T*17 | |||||||||
| F | Abnormal EEG, hyperactivity, mild intellectual disability | c.4173dup | Het | WES | De novo | Yes | Noncompliance | None | |
| Q1392T*17 | |||||||||
| 5 years | M | GTCS (10 min, grumpy, talking to himself | c.670C>T | Het | WES | De novo | No | Abnormal (concrete is unknown) | VPA |
| R224* | |||||||||
| 5 years | M | Partial tonic–clonic, only disturbances of consciousness, frequent seizures | c.4012A>C | Het | epilepsy-targeted next-generation sequencing | Unknown | No | Normal | LEV, VPA, CBZ |
| K1338Q | |||||||||
| 3 years, 5 months | F | GTCS, myoclonic, partial tonic, partial tonic–clonic (20 min), frequent seizures | c.2416dup | Het | WES | De novo | No | Normal | LEV, VPA, TPM, CLZ |
| R806Kfs*20 | |||||||||
| 3 years, 1 months | F | GTCS, partial tonic–clonic (20 min), frequent seizures | c.1727-1728insAT | Het | WES | De novo | No | Small hippocampus | LEV, VPA, TPM, PER, KD |
| E576Efs*13 |
GTCS, generalized tonic–clonic seizure; VPA, valproate; PB, phenobarbital; TPM, topiramate; LTG, lamotrigine; CBZ, carbamazepine; CLZ, clonazepam; PER, perampanel; ACTH, adrenocorticotropic hormone; KD, ketogenic diet; Het, heterozygous.