Presentation
The mutation was present in the other available affected family members (II:1, III:1, and III:2) but not in subject III:3 (with a febrile seizure only) and in 130 unrelated healthy control subjects of Italian ancestry. [jamanetwork.com]
With the present sample size, we did not detect any significant differences in the types of auditory symptoms in families with vs without. Additional investigation of auditory symptom types with a larger sample size is warranted. [ncbi.nlm.nih.gov]
«Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du RéseauObservatoire Longitudinal de l’Epilepsie». Epilepsia (n.º 42(4), págs. 464-75). [cv.uoc.edu]
Psychiatrical
- Visual Hallucination
Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling of dizziness or spinning (vertigo), or other symptoms affecting the senses. [medlineplus.gov]
Neurologic
- Memory Impairment
«Structural and functional correlates of unilateral mesial temporal lobe spatial memory impairment». Brain (n.º 131, págs. 3006-3018). Goodglass, H.; Kaplan, E. (1986). Evaluación de la afasia y de trastornos relacionados (2.ª ed.). [cv.uoc.edu]
Workup
EEG
- Spike-and-Slow-Waves
An EEG report from the treating physician indicated generalized bursts of 2.5 to 3-Hz spike- and slow-wave activity. She was treated successfully with valproic acid. [ncbi.nlm.nih.gov]
Treatment
«Update on surgical treatment of the epilepsies. Summary of the Second International Palm Desert Conference on the Surgical Treatment of the Epilepsies» (1992). Neurology (n.º 43, págs. 1612-1617). Engel, J. J. (1996). «Surgery for seizures». [cv.uoc.edu]
However, no further seizures occurred after resumption of the phenytoin treatment. [jamanetwork.com]
Prognosis
[…] the Ile122Lys point mutation is not secreted from transfected cells, as previously shown for other single amino acid substitutions.8,11,12 Identification of ADLTE is clinically important because this form of focal epilepsy generally has a favorable prognosis [jamanetwork.com]
Etiology
This family illustrates that rare epilepsy syndromes within a single family can have both genetic and structural etiologies. [link.springer.com]
These frequently contained additional seizure descriptions, histories of etiologic factors, and EEG and neuroimaging data. Some patients were also given a brief neurologic examination and a study EEG. [ncbi.nlm.nih.gov]
Epidemiology
«The epidemiology of the epilepsies: future directions, International League Against Epilepsy». Epilepsia (n.º 38, págs. 614-8). Jallon P.; Loiseau, P.; Loiseau J. (2001). [cv.uoc.edu]
Prevention
Also, detection of LGI1 mutations in familial cases with lateral temporal epilepsy could contribute—together with the clinical data—to avoiding long presurgical studies and preventing unnecessary surgery. [jamanetwork.com]