West syndrome is an age-dependent epileptic encephalopathy. Despite potential side effects, hormonal therapy remains the main treatment for West syndrome. Here, we report on 10 patients receiving steroid treatment who presented with unusual, mostly hyperkinetic, movements. Facial grimacing, repetitive mouth opening, adduction and abduction of upper and lower extremities, and periodical strabismus in different combinations were observed in all patients, independent of formulation, dose, duration, and efficacy of treatment. Symptoms disappeared in sleep and reappeared immediately on arousal. Dyskinesias stopped gradually after a month of discontinuation of treatment. Repeated EEGs did not show corresponding epileptiform activity. We conclude that these abnormal movements can be attributed to side effects of hormonal treatment.

Glutamic acid decarboxylase (GAD) antibodies are associated with disabling conditions such as stiff person syndrome, temporal lobe epilepsy (TLE), limbic encephalitis, cerebellar ataxia (CA), and ocular movement disorders, which are usually chronic and difficult to treat. GAD-related TLE has poor response to anti-seizure medications and immune therapies, and epilepsy surgery is rarely successful. We report on a 47-year-old female with history of migraine, autoimmune thyroid disease, ankylosing spondylitis, and drug-resistant TLE. A video electroencephalography recorded frequent seizures with temporo-insular semiology, correlating to left temporal epileptiform activity and left mesiotemporal hyperintensity on magnetic resonance imaging. GAD autoimmunity was confirmed by very high GAD antibody titers in serum and cerebrospinal fluid. Steroids, immunoglobulins, and cyclophosphamide had no effect, and selective left amygdalectomy was performed based on very restricted hypermetabolism on positron-emission tomography. After transient seizure freedom, significant epilepsy improvement was observed in spite of memory decline. Transient worsening was noted 1 year later during diabetes mellitus manifestation and 5 years later during presentation of progressive CA, which stabilized on rituximab treatment. We believe this case illustrates the diversity and the frequent overlap of GAD-associated disorders, the need of early and aggressive immunotherapy in severe patients, as well as the possible benefit from epilepsy surgery in some GAD-TLE.

Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non‐convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures. [Published with video sequences]

Objective: Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the Randomized European trial of Steroids versus Clobazam Usage for Encephalopathy with Electrical Status Epilepticus in Sleep (RESCUE ESES). Methods: Ten centers participated in this retrospective study. Inclusion criteria were diagnosis of (D)EE‐SWAS between 2 and 12 years of age; treatment with either clobazam or corticosteroid for a consecutive period of more than 1 month within 1 year of diagnosis; and no prior treatment with clobazam or corticosteroid. Primary outcome was defined as improvement in daily functioning after 6 months of treatment, as judged by a principal investigator. Spike–wave index (SWI) was measured as secondary outcome and occurrence of adverse events was assessed. Data were analyzed by an intention‐to‐treat principle. In addition, an as‐treated analysis was conducted to compare outcomes between patients who received oral prednisolone and intravenous methylprednisolone at any point during the 6‐month treatment course, regardless of their initial selected treatment (corticosteroid or clobazam). Results: Seventy‐two patients met eligibility criteria and were initially treated with corticosteroid ( n = 24) or clobazam ( n = 48) between June 2011 and March 2020. Baseline characteristics did not differ between groups. After 6 months, 84% of patients in the corticosteroid group showed improvement in daily functioning, compared to 51% in the clobazam group (relative risk [RR] 1.6, 95% confidence interval [CI] 1.2–1.8, p = .012). SWI improved in the corticosteroid group (median change from baseline −10, interquartile range [IQR] −26 to −1), but not in the clobazam group (median change 0, IQR −20 to 7, p = .036). Both treatments were well tolerated. In patients treated with corticosteroid, intravenous pulse methylprednisolone therapy was better tolerated than daily oral prednisolone. Significance: These findings complement the results of the RESCUE ESES trial and are consistent with the superiority of corticosteroid over clobazam in the early management of children with (D)EE‐SWAS.