Spotlight on Benign adult familial myoclonic epilepsy

In this article, Dr. Pasquale Striano of the University of Genova, Istituto Gaslini discusses benign adult familial myoclonic epilepsy, which is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and rare convulsive seizures. In most affected individuals, the disease takes a benign course; however, at advanced age, worsening of the tremor and myoclonus is common, and slight intellectual disability is present in a subset of patients. Prevalence is unknown but is estimated to be less than 1 out of 35,000. It is transmitted autosomal dominantly, and penetrance is high.

This is a well-delineated disease with remarkable features that clearly distinguish it from other forms of myoclonic epilepsies. Genetic studies of the families show heterogeneity, and different susceptible chromosomal loci have been identified. Diagnosis is based on clinical and electrophysiological findings. It must be differentiated from epilepsy syndromes with prominent myoclonus features. Valproate, levetiracetam, and benzodiazepines are the most beneficial treatments.

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Spotlight on Angelman syndrome

Angelman syndrome is a neurodevelopmental disorder characterized by intellectual disability, epilepsy, ataxia, and a unique behavioral phenotype. Diagnosing Angelman syndrome has important implications for prognosis, genetic counseling, health surveillance, and, in some instances, specific symptomatic therapies.

In this article, Dr. Ryan Lee of the John A Burns School of Medicine at the University of Hawaii discusses the diagnosis, prognosis, genetic counseling, and health surveillance of patients with Angelman syndrome. Also discussed are studies using models of Angelman syndrome, which provide insight into the pathoetiology and potential treatment of Angelman syndrome.

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Spotlight on Lennox-Gastaut syndrome

In this article, Dr. Mary Spiciarich and Dr. Solomon Moshe of Albert Einstein College of Medicine discuss Lennox-Gastaut syndrome, which is diagnosed in individuals with intractable epilepsy characterized by multiple seizure types, slow spike-wave pattern on EEG, and cognitive deterioration typically after first seizure onset. Seizure types include tonic seizures that mainly occur in sleep, atonic seizures, atypical absences, and myoclonic seizures. The condition may follow West syndrome but has also been associated with various genetic and neurocutaneous syndromes, metabolic diseases, and early infectious or ischemic insults or may have an unknown etiology. Numerous interventions as well as medications have been studied in treating this condition. Clobazam has been studied in controlling drop attacks and cannabidiol is being researched as an adjunctive antiepileptic agent in patients with Lennox-Gastaut syndrome and other intractable epilepsy syndromes.

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Spotlight on Eyelid myoclonia with and without absences

Eyelid myoclonia with or without absences is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids, often with brief absences. These seizures are mainly precipitated by lights and closing of the eyes. They occur in symptomatic, possibly symptomatic, and idiopathic generalized epilepsies. Most authors support the view that eyelid myoclonia with absences is the defining seizure type of an idiopathic syndrome (Jeavons syndrome) of reflex epilepsy, which is genetically determined, has age-related onset, and affects otherwise normal children, with a female preponderance. Jeavons syndrome is probably lifelong with continuing seizures in adult life. Eyelid myoclonia is often confused with facial tics or self-induction of seizures.

In this article, Dr. C P Panayiotopoulos of St. Thomas’ Hospital details developments in the clinical manifestations, pathophysiology, genetics, and pharmacological treatment of eyelid myoclonia with absences.

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Spotlight on Driving and epilepsy

Epilepsy affects driving capability due to the paroxysmal nature of the disorder and associated impaired cognition, which may result in loss of vehicle control. Among people with medication-resistant epilepsy, restriction from driving is universally accepted as a means to protect the public and the people with epilepsy themselves from driving-related accidents. State and federal regulators weigh individual needs versus the potential safety issues and make judgments depending on local factors. The period of restriction varies widely, as there are no clear scientific data to indicate a standard duration. Physicians play an important role in the medical opinion, counseling, and decision-making regarding driving privileges for people with epilepsy.

In this article, Dr. Appaji Rayi, Dr. Muhammad Taimoor Khan, and Dr. Konark Malhotra of West Virginia University Charleston Division and Dr. David Gloss, Director of Epilepsy of the Geisinger Health System, provide an overview of issues related to driving for people with epilepsy.

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Spotlight on EEG in epilepsy

In this article, Drs. William Tatum, Vanessa Marin-Collazo, and Jason Siegel of Mayo Clinic discuss the use of electroencephalogram (EEG) in epilepsy. EEG is the most useful test when evaluating possible epilepsy. It may provide specific neurophysiological information to support the clinical diagnosis, and based on the type of interictal epileptiform discharges, it can identify the seizure type or epilepsy syndrome. EEG findings can guide management, from directing antiepileptic drug management to localizing an epileptogenic zone for neurosurgical treatment. Furthermore, it is an important adjunct to the clinical examination in the critically ill for diagnosing and treating unrecognized seizures and nonconvulsive status epilepticus. The usefulness of EEG has extended from a widely available, versatile, portable electrophysiological study to a sophisticated computer-based clinical and research metric that is elemental in exploring fundamental brain function.

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Spotlight on Pregnancy and epilepsy

Approximately 20,000 to 25,000 children are born in the United States each year to mothers with epilepsy, and between 0.3% and 0.5% of all pregnancies occur among women with epilepsy. Most of these women need to continue taking medication during pregnancy because uncontrolled convulsive seizures may be harmful to the women as well as to their fetuses. The challenge to physicians is to prescribe a treatment that is effective in controlling seizures but has minimal associated risks.

Overall, 95% of women with epilepsy have uncomplicated pregnancies and deliver normal babies. This rate can be significantly improved with proper management; any serious harm to the baby or mother, particularly if it is avoidable, is too much for the family that is affected. The highest risks for major congenital malformations and adverse cognitive outcomes are associated with polytherapy (mainly combination of valproate and lamotrigine). With monotherapy, the highest risk is found with valproate followed by topiramate. In utero exposure to monotherapy with lamotrigine, carbamazepine, and levetiracetam have a low risk of major congenital malformations, near 2.5%. Furthermore, the concentration of antiepileptic drugs may change significantly during pregnancy and the puerperium, resulting in an increase in seizures (mainly with lamotrigine and oxcarbazepine) or toxicity. Women should be made fully aware of all aspects of antiepileptic drug treatment and be able to make informed decisions.

In this article, Dr. C P Panayiotopoulos of St. Thomas’ Hospital details the various issues that women with epilepsy face before, during, and after pregnancy.

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Spotlight on Impact of sleep on epileptic manifestations

The circadian, homeostatic, ultradian, and microstructural processes that regulate the sleep-wake cycle are endowed with modulatory properties on epileptic events. In particular, sleep is a powerful trigger of both ictal and interictal manifestations. Non-REM sleep and cyclic alternating pattern promote strong activating effects, although REM sleep tends to exert a more inhibitory action. These characteristics are highly expressed in nocturnal frontal lobe epilepsy.

In this article, Dr. Parrino of the University of Parma discusses the impact of sleep on epileptic manifestations.

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Spotlight on Tonic status epilepticus

Tonic status epilepticus is a serious, sometimes fatal, epileptic condition that may last for days or even months and occurs mainly in children with neurocognitive impairment and severe epilepsy, such as Lennox-Gastaut syndrome. Tonic status epilepticus in these children comprises repetitive, frequent tonic seizures. Characteristically, as the status progresses, motor symptoms tend to lessen whereas autonomic disturbances, including respiratory depression, become more prominent. At final stages, there may be only electrographic evidence of tonic seizures. Video-EEG monitoring is usually mandated for the recognition of autonomic status epilepticus, particularly when motor manifestations are minimal.

Treatment is demanding, and the intravenous administration of benzodiazepines may be of some concern because of a few reports that these may induce tonic status epilepticus; newer antiepileptic drugs such as lacosamide have been reported as effective. Unfortunately, the only systematic studies of tonic status epilepticus are dated 40 years ago.

Dr. C P Panayiotopoulos of St. Thomas’ Hospital in London reviews the limited information on clinical manifestations, investigative procedures, pathophysiology, and optimal but anecdotal management of patients with tonic status epilepticus.

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Spotlight on Schizencephaly

Schizencephalies are brain dysgeneses characterized by cerebral clefts lined by the polymicrogyric cortex extending from the pial surface to the lateral ventricles. The severity of the clinical picture, made up by motor deficits, intellectual disability, and epilepsy, is related to type, location, and size of the clefts and the presence of associated brain abnormalities. Epidemiologic and genetic studies suggest both acquired and genetic causes.

In this article, Dr. Peter Barth of the University of Amsterdam describes the various types of schizencephaly with an update on recent findings.

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