At the time of the study, 17 members of the family had experienced seizures. Fourteen of these had only recurrent unprovoked seizures (epilepsy), and the other three had acute symptomatic seizures (two febrile, one alcohol-related). Eleven of those with epilepsy had no identified cause; these were classified as idiopathic/cryptogenic. Ten of the 11 people with idiopathic/cryptogenic epilepsy had focal features at the onset of their seizures. All had secondarily generalized seizures as well. The remaining person had only generalized nocturnal seizures; we were unable to determine whether they were primary or secondarily generalized. Complex partial seizures without secondary generalization occurred in seven members, and simple partial seizures occurred in two. Two-hour interictal EEG recordings were done on eight members with idiopathic/cryptogenic epilepsy, one with remote symptomatic epilepsy, and one with nonfebrile acute symptomatic seizures. None of the EEGs showed any abnormality. Imaging data (CT scans) were available for only three affected members, and none was reported to have any abnormality.
Since 1995, one additional family member has had a single unprovoked generalized tonic-clonic seizure at 11 years of age. Because the seizure occurred during sleep and its onset was not witnessed, further clinical details were not available. This patient was started on carbamazepine and to our knowledge has had no further events. This patient, like all other affected family members, shares the seven-marker haplotype that defines the minimal region containing the susceptibility gene.1
This patient had been classified as “unknown” in the original linkage study because of his young age and absence of seizures at that time.
shows the total number of people who reported each symptom, and the distribution and clustering of seizure manifestations within individual subjects. Most subjects described more than one symptom.
Sensory symptoms were reported most commonly, occurring in 73% (8/11) of subjects. Auditory symptoms were especially common (55%; 6/11), but other sensory symptoms (visual, olfactory, vertiginous, and cephalic) were also reported, both in isolation and accompanying the auditory symptoms. Somatosensory auras were not reported. Autonomic symptoms occurred in 45% (5/11) of patients. Psychic or emotional symptoms were present in 45% (5/11) of patients. Motor symptoms were least common (2/18 = 18%), and dystonic posturing was not reported.
Specific auditory symptoms varied among affected family members (). Some described unformed sounds (e.g., #842), whereas others reported distortions or volume changes (e.g., #903). Two patients reported formed and occasionally quite specific auditory auras (e.g., #111). One subject's description suggested seizures provoked by auditory stimuli (#905). A more complex, possibly cognitive disturbance was reflected in another patient's description (#819).
Verbatim descriptions of auditory auras in family 6610
Postictal features in affected family members were also reviewed, but provided no additional information to aid in localization.