1-1-04. Positive rate of giant somatosensory evoked potential (giant SEP) and C reflex in benign adult familial myoclonus epilepsy (BAFME)

Publication date: June 2017
Source:Clinical Neurophysiology, Volume 128, Issue 6
Author(s): Takefumi Hitomi, Katsuya Kobayashi, Tomohiko Murai, Takeyo Sakurai, Riki Matsumoto, Ryosuke Takahashi, Akio Ikeda
Benign adult familial myoclonus epilepsy (BAFME) manifests an autosomal dominant trait, cortical tremor resembling essential tremor and infrequent generalized tonic-clonic seizures. BAFME also shows electrophysiological features of cortical reflex myoclonus. To clarify the positive rate of giant somatosensory evoked potential (giant SEP) and C reflex in BAFME, we retrospectively analyzed 19 patients in a total of 14 families (5 men and 14 women, age: 51±16years) about positive rate of giant SEP and C reflex. The positive rates of giant SEP and C reflex were 17/19 (89%) and 16/18 (88%), respectively. Relatively young 3 patients (27, 30, and 34years old) showed no giant SEP or no C reflex. 1 patient (34years old) showed neither giant SEP nor C reflex, who was examined within 1year from the clinical onset. Whereas even 1 patient without cortical tremor showed giant SEP. The positive rate of giant SEP and C reflex is quite high in BAFME. Even presymptomatic patient showed giant SEP. However, some younger patients did not show giant SEP and/or C reflex. Therefore, family history of both clinical and electrophysiological findings is crucial for the diagnosis of BAFME.



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