Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.

ABSTRACT: Biallelic CNTNAP2 variants have been associated with Pitt-Hopkins-like syndrome. We describe six novel and one previously reported patients from six independent families and review the literature including 64 patients carrying biallelic CNTNAP2 variants. Initial reports highlighted intractable focal seizures and the failure of epilepsy surgery in children, but subsequent reports did not expand on this aspect. In all our patients (n = 7), brain MRI showed bilateral temporal gray/white matter blurring with white matter high signal intensity, more obvious on the T2-FLAIR sequences, consistent with bilateral temporal lobe dysplasia. All patients had focal seizures with temporal lobe onset and semiology, which were recorded on EEG in five, showing bilateral independent temporal onset in four. E

SUBMITTER: Panza N 

PROVIDER: S-EPMC10839365 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature