Simona Balestrini

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

The paper investigates the functional impact of SCN2A variants associated with non-syndromic autism, finding that only non-syndromic ASD variants cause dominant-negative effects on Nav1.2 channels.

This study finds impaired associative memory and inference in postictal psychosis, linked to disrupted theta band activity, suggesting shared neural mechanisms with schizophrenia.

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.

This study uses whole genome sequencing to identify genomic variants associated with clinical response to levetiracetam in patients with epilepsy, finding common and rare variants in genes related to synaptic function and neurotransmission.