Autosomal Dominant Epilepsy With Auditory Features

Etiologies: Autosomal dominant inheritance, with an penetrance of about 80%. About half of them have mutations in LGI1 gene [1].

Age of onset: onset of seizures generally from age 4 to 40 years (typically has onset in adolescence or early adulthood).

Seizure characteristics: The seizures mainly involves the lateral neocortex of temporal lobe, which can be manifested as focal sensory auditory seizures comprise simple elementary sounds (such as hearing bell, buzzing, ticking or nonspecific noise). It mainly occurs at night, which can be mild and infrequent, with good response to antiepileptic drugs, and some can have sensory aphasia [2-3].

Reference: Background: normal. Interictal: most of them are normal, and some of them may have focal temporal epileptiform discharges. Ictal: paroxysmal sharp wave or slow wave rhythm starting from temporal lobe [2-3].

Brain MRI: Most of them are bacically normal.

Developmental progress: Most of them are bacically normal.

Reference

1. Pizzuti, A., et al., Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.Ann Neurol, 2003. 53(3): p. 396-9.
2. Panayiotopoulos.  癫痫综合征及临床治疗.  北京 : 人民卫生出版社, 2012.
3. 刘晓燕.  临床脑电图学. 第2版.  北京 : 人民卫生出版社, 2017.