Epilepsy in KBG syndrome.

AIM: To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort of patients with KBG syndrome and epilepsy. METHOD: Clinical history, age at epilepsy onset, seizure types, EEG findings, duration of epilepsy, and response to therapies were retrospectively reviewed in 11 patients (three females, eight males) with KBG syndrome. RESULTS: All detected genetic mutations were pathogenic and affected the C-terminal region at exon 9 of ANKRD11. One patient had 16q24.3 microdeletion including the ANKRD11 gene. Mean age at onset was 67 months. Epilepsy type was focal in five patients and generalized in four. Two patients had developmental and epileptic encephalopathies. Seizure freedom was obtained after a period varying between 15 days and 6 years. INTERPRETATION: In our patients, epilepsy appeared to respond well to treatment and, in some cases, to be self-limiting. The molecular characteristics of our patients' genetic abnormalities did not point towards any specific epilepsy hot spot. Epilepsy should be considered in the diagnostic work-up of patients with KBG syndrome. WHAT THIS PAPER ADDS: Some of the epilepsy types of KBG syndrome appear to be self-remitting. The epilepsy phenotypes associated with KBG syndrome are quite variable.

Ictal yawning in a patient with drug-resistant focal epilepsy: video/EEG documentation and review of literature reports.

Yawning is an involuntary sequence of mouth opening, deep inspiration, brief apnea, and slow expiration. Few cases of yawning as a clinical sign of epileptic seizures, ictally or postictally, have been reported. We report the video/EEG documentation of yawning as an ictal sign in a 31-year-old patient affected by drug-resistant focal epilepsy symptomatic of bilateral perisylvian polymicrogyria. Since the age of 10 she has had seizures characterized by yawning, staring, and eye blinking. Bilateral rhythmic frontotemporal spikes and waves characterized her EEG. We reviewed all reported cases and compared clinical and EEG features. We believe that yawning as part of an epileptic seizure might be considered a rare automatic behavior, like other automatisms frequently reported in epileptic seizures. Automatisms are more frequently described in patients with temporal lobe epilepsy, and involvement of the temporal lobe in most of the published cases may have led to this explanation. It is possible that yawning within epileptic seizures could be considered activation of distinct symptomatogenic cortex rather than a release phenomenon. This rare ictal manifestation should be recognized as epileptic to avoid misdiagnosis and treatment failure.