Climate change and epilepsy: Insights from clinical and basic science studies.

Climate change is with us. As professionals who place value on evidence-based practice, climate change is something we cannot ignore. The current pandemic of the novel coronavirus, SARS-CoV-2, has demonstrated how global crises can arise suddenly and have a significant impact on public health.

Valproate as a mainstay of therapy for pediatric epilepsy.

This article reviews relevant pharmacologic and clinical information gathered for valproate since it was introduced into clinical practice 37 years ago and the application of this information for the treatment of childhood epilepsy. Valproate is available for oral and parenteral use. Oral forms are almost completely bioavailable but the rate of absorption varies between formulations.

Epilepsy in children.

10.5 million children worldwide are estimated to have active epilepsy. Over the past 15 years, syndrome-oriented clinical and EEG diagnosis, and better aetiological diagnosis, especially supported by neuroimaging, has helped to clarify the diversity of epilepsy in children, and has improved management.

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Objective: To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men.

Background: X-linked PNH caused by FLN1 mutations (MIM #300049) implies prenatal or early postnatal lethality in boys and 50% recurrence risk in daughters of affected women.

Methods: Clinical examination, cognitive testing, MRI, and mutation analysis (denaturing high-performance liquid chromatography and direct sequencing) on blood lymphocytes and single hair roots were performed for nine affected individuals, including three men.

Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).

Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are associated with other types of seizures and with cognitive impairment but no obvious brain lesion. Characterization of the associated seizures and age of expression allows inclusion of a number of cases in two main subgroups: severe myoclonic epilepsy (SME, or Dravet syndrome) and myoclonic-astatic epilepsy (MAE).

Electrophysiological characterization of spontaneous and carbamazepine-induced epileptic negative myoclonus in benign childhood epilepsy with centro-temporal spikes.

Objective: Epileptic negative myoclonus (ENM), a transient muscular atonic phenomenon time-locked to epileptiform EEG abnormalities, is often observed in children with benign childhood epilepsy with centro-temporal spikes (BECTS). In some, for unknown reasons, ENM can be worsened by carbamazepine (CBZ). We describe two children aged 11 and 15 years, in whom CBZ precipitated seizure worsening and ENM.

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting with severe mental retardation and epilepsy. The main clinical features of AS may not be apparent early in life. Clinical findings present in all patients include developmental delay, which becomes apparent by 6-12 months of age, severely impaired expressive language, ataxic gait, tremulousness of limbs, and a typical behavioral profile, including a happy demeanor, hypermotoric behavior, and low attention span.

Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy.

Purpose: To study the neurophysiologic characteristics of epileptic myoclonus in patients with Lennox-Gastaut syndrome (LGS) and myoclonic astatic epilepsy (MAE).

Methods: Three patients with symptomatic LGS (mean age, 15 years +/- 4) and three with cryptogenic MAE (mean age, 9 years +/- 3) were studied. Temporal relationships between electroencephalographic (EEG) and electromyographic activity were studied by analyzing latencies of EEG activity related to the onset of single myoclonic jerks, by using burst-locked EEG averaging where necessary.