Phenotypes associated with the disease epilepsy, familial temporal lobe, 1 (OMIM:600512):
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: PCS. Frequency: 12/12. (PMID:11906506)
- Focal sensory seizure with vestibular features (HP:0032759): A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 4/12. (PMID:11906506)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/12. (PMID:11906506)
- Focal clonic seizure (HP:0002266): A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Focal impaired awareness seizure (HP:0002384): Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. Evidence: PCS. Frequency: 6/18. (PMID:7647791)
- Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159): A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. Evidence: PCS. Frequency: 4/11. (PMID:10851389)
- Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773): A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Focal sensory seizure with auditory features (HP:0011158): A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. Evidence: PCS. Frequency: 13/29. (PMID:10851389;PMID:7647791)
- Focal aware sensory seizure with auditory features (HP:0032864): A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. Evidence: PCS. Frequency: 4/12. (PMID:11906506)
- Focal automatism seizure (HP:0032898): A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Focal sensory seizure with cephalic sensation (HP:0032810): A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. Evidence: PCS. Frequency: 3/11. (PMID:10851389)
- Deja vu aura (HP:0012005): A subjective feeling that an experience which is occurring for the first time has been experienced before. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Focal sensory seizure with olfactory features (HP:0011161): Seizures characterized by olfactory phenomena as its first clinical manifestation. Evidence: PCS. Frequency: 1/11. (PMID:10851389)
- Focal sensory seizure with visual features (HP:0011165): A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. Evidence: PCS. Frequency: 2/11. (PMID:10851389)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/12. (PMID:11906506)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: PCS. Frequency: 12/18. (PMID:7647791)
- Focal aware seizure (HP:0002349): A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. Evidence: PCS. Frequency: 15/30. (PMID:7647791;PMID:11906506)
- 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: PCS. (PMID:10851389)