Electroclinical features of myoclonic-tonic and spasm-tonic seizures in childhood.

Myoclonic-tonic (MT) and spasm-tonic (ST) seizures represent distinctive features in late infantile epileptic encephalopathy (LIEE). This commentary aims to delineate the electroclinical characteristics of MT and ST seizures, setting them apart from other seizure types. Our analysis encompasses 211 ST and MT seizures observed in 31 patients diagnosed with LIEE, providing a comprehensive overview of video-EEG features and polygraphic signatures.

Late infantile epileptic encephalopathy: A distinct developmental and epileptic encephalopathy syndrome.

Objective: Within the spectrum of developmental and epileptic encephalopathy (DEE), there are a group of infants with features that are distinct from the well-recognized syndromes of early infantile developmental and epileptic encephalopathy (EIDEE), infantile epileptic spasm syndrome (IESS), and Lennox-Gastaut syndrome (LGS). We refer to this condition as late infantile epileptic encephalopathy (LIEE). Our objective was to highlight the characteristics of this group by analyzing patients who exhibit prototypical features.

Efficacy and tolerability of the modified Atkins diet in children with drug-resistant genetic generalized epilepsy.

Objective: The ketogenic diet therapy is a time-tested and potent non-pharmacologic treatment for epilepsy. However, the study of the ketogenic diet in patients with genetic generalized epilepsy (GGE) is not widely established. The aim of this study was to evaluate the efficacy and tolerability of the modified Atkins diet, a variation of the ketogenic diets, as a treatment for drug-resistant GGE.

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

KCNN2 encodes the small conductance calcium-activated potassium channel 2 (SK2). Rodent models with spontaneous Kcnn2 mutations show abnormal gait and locomotor activity, tremor and memory deficits, but human disorders related to KCNN2 variants are largely unknown. Using exome sequencing, we identified a de novo KCNN2 frameshift deletion in a patient with learning disabilities, cerebellar ataxia and white matter abnormalities on brain MRI.