Autosomal dominant lateral temporal lobe epilepsy with heterozygous RELN mutation：one family report and literature review / 中华神经科杂志

ABSTRACT

Objective:To investigate the clinical features, imaging features, gene diagnosis, treatment and prognosis of autosomal dominant lateral temporal epilepsy (ADLTE) with heterozygous RELN mutation.Methods:Clinical data of an ADLTE family caused by a heterozygous mutation in the RELN gene diagnosed in September 2019 at Qilu Hospital of Shandong University were collected. The clinical characteristics of ADLTE were analyzed, and literature review was conducted.Results:The male proband, 22 years old, was admitted with the clinical manifestations including seizures begun at temporal lobe, which specifically manifested as a sudden emergence of binaural hum, lasting for more than 10 seconds, and the symptoms can self-recover quickly. Half a month later, generalized tonic-clonic seizures attacked subsequently after a similar auditory aura. There were no abnormal findings in interictal electroencephalography (EEG) and magnetic resonance imaging (MRI). Following the family history, his father had similar auditory symptoms around the age of 20, and occasional secondarily generalized tonic-clonic seizures appeared. Antiepileptic drug can control better. The whole exome sequencing of three people in the family revealed that both the proband and his father had NM-005045 c.6068T>C heterozygous mutation in the RELN gene.Conclusions:ADLTE mostly occurs in juveniles or early adulthood. The main clinical manifestations are focal seizures with auditory auras, which can be followed by generalized tonic-clonic seizures. There are no abnormal findings in the interictal EEG and MRI. ADLTE is sensitive to drug treatment and has good clinical prognosis. The study identified a novel heterozygous mutation NM-005045 c.6068T>C in RELN gene, which is responsible for the development of ADLTE.