BACKGROUND: Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.
METHODS: As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.
RESULTS: Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.
CONCLUSIONS: This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.

KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy.

An 80-year-old woman who was hospitalized due to small subarachnoid hemorrhaging caused by a bruise in the left temporal region of the brain. Nausea/vomiting and malaise appeared after dinner on the fourth day of the illness. Head computed tomography showed that the post-traumatic status was almost normal; however, the sodium ion (Na+) level was 114 mEq/L, indicating severe hyponatremia. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) following a head injury was initially suspected, and water restriction and saline fluid replacement were initiated. However, the Na+ level did not improve, and signs of dehydration emerged. On the seventh day of the illness, drinking water restriction was discontinued, and 3% sodium chloride fluid replacement was initiated. The patient subsequently followed a favorable course, and the Na+ level remained normal even after fluid replacement was discontinued. It is important to differentiate between SIADH and cerebral salt wasting syndrome (CSWS), as the treatment of the two are diametrically opposite. However, distinguishing between these two diseases at an early onset can be difficult, as they have very similar laboratory findings. CSWS can occur in patients with minor head injury, as in the present case, so we should bear this disease in mind as a differential diagnosis, even when imperceptible graduations are recognized in patients.