Table 1.
Clinical and Genetic Characteristics of Persons with a CHD2 Mutation
| Proband | Sex | Age at Inclusion | Mutation | Development Prior to Epilepsy | Age of Seizure Onset | First Seizure Type | Further Seizure Types | Fever Sensitivity | EEG | Imaging | Clinical Exam | Cognitive Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | male | 6 years | c.1810−2A>C (p.?) | normal | 14 months | simple FSs | head drops, GTCSs, myoclonic seizures, atypical absences, status epilepticus | + | frequent generalized (poly)SWs | normal | ataxia, dysarthria | mild ID |
| 2 | female | 24 years | c.4971G>A (p.Trp1657∗) | normal | 2 years | cluster of FSs | myoclonic absences, myoclonic seizures, GTCSs | + | frequent generalized SWs and polyspikes | normal | normal | mild ID |
| 3 | male | 6 years | c.1396C>T (p.Arg466∗) | subtle delay in motor and speech development | 3 years, 6 months | two FSs during single fever episode | GTCSs and hemiclonic, atonic, myoclonic, atypical absences | + | generalized (poly)SWs | nonspecific atrophy | mild ataxia | mild ID, ASD, ADHD |
Abbreviations are as follows: ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; FS, febrile seizure; GTCS, generalized tonic-clonic seizure; ID, intellectual disability; and SW, spike-wave complex.