CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature

ARTICLE HIGHLIGHTS

Case characteristics

Before experiencing seizures, our patient suffered from developmental delays and attention deficit hyperactivity disorder, which is consistent with the performance of X-linked intellectual disability. After seizure occurrence, the patients’ speech expression gradually decreased, the electroencephalogram (EEG) continued to show abnormal wave patterns during sleep, and a de novo mutation of the CNKSR2 gene was identified.

Clinical diagnosis

X-linked epilepsy-aphasia syndrome.

Differential diagnosis

Hysteria and childhood autism.

Laboratory diagnosis

A de novo mutation of the CNKSR2 gene.

Imaging diagnosis

EEG continued to show abnormal wave patterns during sleep.

Treatment

Immunoglobulin, oral prednisone, lamotrigine and sodium valproate oral solution.

Related reports

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum has been reported in the journal of Epilepsia.

Term explanation

Epileptic encephalopathy with continuous spike-and-wave during sleep.

Experiences and lessons

This case will contribute to improvements in our understanding of X-linked epilepsy-aphasia syndrome. Patients with epilepsy and speech disorders should be advised to undergo EEG monitoring and genetic testing to confirm the diagnosis. The early diagnosis and early use of antiepileptic drugs as well as hormone therapy can recover speech comprehension to different degrees and improve abnormal discharge.