Epilepsy syndrome | Typical history | Family history | Genes | Inheritance pattern | Penetrance | Other comments |
Autosomal dominant lateral temporal epilepsy (ADLTE) | Auditory (rarely visual) aura may progress to bigger seizures. | Common, but may be absent | LGI1 RELN | Autosomal dominant | 54 to 85% | Typically mild syndrome. |
Familial focal epilepsy with variable foci (FFEVF) | Nocturnal hypermotor seizures common. Seizure types can change for individual or within family. | Common, but may be absent | DEPDC5 NPRL3 NPRL2 | Autosomal dominant | 60% Variable expressivity: Syndrome severity varies | |
FLNA-associated periventricular nodular heterotopia | Focal or multifocal seizures. Characteristic MRI with nodules lining the ventricles, typically bilaterally. | May be absent | FLNA | X-linked | High | Male fetuses of affected mother have 50% risk of inheriting pathogenic variant and having a congenital syndrome with risk of perinatal death. |
Genetic epilepsy with febrile seizures plus (GEFS+)/SCN1A spectrum disorder | Range from febrile seizures to febrile seizure followed by later-onset epilepsy (GEFS+) to developmental and epileptic encephalopathy (including Dravet syndrome). | Common, but variable | SCN1A | Autosomal dominant | Variable penetrance Variable expressivity: Syndrome severity varies | Seizures may be focal and/or generalized. |
Mitochondrial disorder | Varies by syndrome. Some hallmarks include:
| Variable | Many | Typically mitochondrial (maternal) inheritance. Some nuclear genes encode mitochondrial proteins and have autosomal dominant or recessive inheritance. | Variable | |
Tuberous sclerosis complex | Epilepsy type can range from infantile spasms to focal epilepsy; variable age of onset. Can occur with or without neurocognitive comorbidities. Characteristic skin/eye findings. Cortical dysplasia/cortical tubers. With or without SEGA. | May be absent | TSC1 TSC2 | Autosomal dominant | High | In utero screening recommended and treatment available. |
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