Table 2.
Case | Gender | Age | Cause of Death |
Mutation | Associated Syndrome | Clinical Symptoms |
---|---|---|---|---|---|---|
797 | M | 9 | Drowning |
ADNP Ms PQBP1 Ms |
HVDAS RENS1, ID (Redin et al. 2014) |
Language and developmental delay, ADD, mild hypotonia |
AN01570 | F | 18 | SUDEP | PTEN LOF | Cowden syndrome (Tan et al. 2011), autism with macrocephaly |
Large brain size noted at autopsy, epilepsy |
AN16641 | M | 9 | SUDEP |
ARID1B Ms CACNA1C Ms SLC6A8 LOF |
MRD12 (Timothy syndrome) CCDS1 |
FH seizures and speech delay, febrile seizures from 3 years, language delay, hyperactivity, ID, multiplex developmental disorder |
5278 | F | 15 | Drowning, seizure disorder |
CACNA1H Ms SCN1A LOF |
Epilepsy susceptibility Dravet syndrome, GEFSP2, FEB3A (Fujiwara et al. 2003, Depienne et al. 2010, Allen et al. 2013) |
Progressed from febrile seizures in infancy to non-febrile and generalized tonic-clonic seizures |
AN16115 | F | 11 | Drowning, seizure disorder |
SCN1A Ms | Dravet syndrome (Gaily et al. 2013), GEFSP2, FEB3A |
FH seizures and neuropsychiatric disease, progressed from febrile seizures in infancy to febrile, tonic-clonic, and potentially myoclonic seizures, mild ID, hyperlexia |
AN09714 | M | 60 | Pancreatic cancer |
SCN2A LOF (SGSM3 Ms predicted to be benign) |
EIEE11, BFIS3 | Seizures from 3 years old, likely episode of status epilepticus, delayed motor milestones, ID |