| Autor: |
Moloney, Patrick B., McHugh, John, O'Byrne, James, Llamas, Yudy, Lynch, Tim, McGovern, Eavan |
| Předmět: |
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| Zdroj: |
Practical Neurology; Aug2022, Vol. 22 Issue 4, p1-5, 5p |
| Abstrakt: |
Autosomal dominant epilepsy with auditory features (OMIM 600512) is characterised by focal seizures with distinctive auditory auras and/or ictal aphasia. We describe a 17-year-old girl with recurrent attacks of ictal aphasia and rare nocturnal convulsions. She had a four-generation paternal family history of epilepsy. Her father and aunt perceived bells ringing at the onset of seizures. Sequence analysis of the leucine-rich glioma-inactivated 1 (LGI1) gene identified a novel heterozygous variant in the proband and her father. LGI1-related genetic epilepsy has a benign clinical course with a favourable response to antiseizure medications. Auditory or vertiginous seizures may be mistaken for peripheral audiovestibular symptoms, while complex auditory ictal symptoms may be misattributed to primary psychiatric disorders. Recognising this distinctive inherited syndrome should prompt targeted analysis of the LGI1 gene. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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