Phenotypes associated with the disease epilepsy, familial focal, with variable foci 1 (OMIM:604364):
- Focal cortical dysplasia type II (HP:0032051): A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. Evidence: PCS. Frequency: 4/7. (PMID:25623524)
- Focal cortical dysplasia type IIa (HP:0032052): A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. Evidence: PCS. Frequency: 2/7. (PMID:25623524)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:604364)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:604364)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:604364)
- Focal cortical dysplasia (HP:0032046): A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. Evidence: PCS. (PMID:27173016)
- Focal cortical dysplasia type I (HP:0032047): A type of focal cortical dysplasia that is characterized by abnormal cortical layering. Evidence: PCS. Frequency: 2/7. (PMID:25623524)
- Nocturnal seizures (HP:0031951): Seizures that occur while the affected individual is sleeping. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:604364)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:604364)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:604364)
- Hemimegalencephaly (HP:0007206): Enlargement of all or parts of one cerebral hemisphere. Evidence: PCS. (PMID:22497611)