GENETIC ENCYCLOPEDIA
ABOUT US    

   

disease: Epilepsy, lateral temporal lobe, autosomal dominant

id2102
nameEpilepsy, lateral temporal lobe, autosomal dominant
descriptionAutosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Most affected individuals have focal to bilateral tonic-clonic seizures, usually accompanied by "focal aware" and "focal impaired-awareness" seizures, with auditory symptoms as a major focal aware seizure manifestation. Some persons have seizures precipitated by sounds such as a ringing telephone. Age at onset is usually in adolescence or early adulthood (range: age 4-50 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy.
variant-disease NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) AND Epilepsy, lateral temporal lobe, autosomal dominant
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) AND Epilepsy, lateral temporal lobe, autosomal dominant
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) AND Epilepsy, lateral temporal lobe, autosomal dominant
NM_005097.4(LGI1):c.-66G>C AND Epilepsy, lateral temporal lobe, autosomal dominant
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) AND Epilepsy, lateral temporal lobe, autosomal dominant
... 115 more