Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.

Epigenetics refers broadly to processes that influence medium to long-term gene expression by changing the readability and accessibility of the genetic code. The Neurobiology Commission of the International League Against Epilepsy (ILAE) recently convened a Task Force to explore and disseminate advances in epigenetics to better understand their role and intersection with genetics and the neurobiology of epilepsies and their co-morbidities, and to accelerate translation of these findings into the development of better therapies. Here, we provide a topic primer on epigenetics, explaining the key processes and findings to date in experimental and human epilepsy. We review the growing list of genes with epigenetic functions that have been linked with epilepsy in humans. We consider potential practical applications, including using epigenetic signals as biomarkers for tissue- and biofluid-based diagnostics and the prospects for developing epigenetic-based treatments for epilepsy. We include a glossary of terms, FAQs and other supports to facilitate a broad understanding of the topic for the non-expert. Last, we review the limitations, research gaps and the next challenges. In summary, epigenetic processes represent important mechanisms controlling the activity of genes, providing opportunities for insight into disease mechanisms, biomarkers and novel therapies for epilepsy.

No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population.

We examined the potential involvement of the polymorphism in intron 8 of the presenilin-1 (PSEN1) gene as a risk factor for Alzheimer disease (AD), both through independent effect and interaction with the apolipoprotein E (APOE) ε4 allele risk, in 85 patients and 90 controls. We found no significant differences in the distribution of PSEN1 genotype and allele frequency between both groups; and post stratification distribution with APOE ε4 allele. Age of onset suggests that this polymorphism influences AD progression.

Childhood occipital epilepsy of Gastaut: a case report.

BACKGROUND: Idiopathic childhood occipital epilepsy of Gastaut is a rare but well defined syndrome within the group of idiopathic focal epilepsies in childhood. Clinical manifestations are characterized by simple partial seizures with mainly visual symptoms followed by secondary generalization. AIM: Report of a case of Childhood Occipital Epilepsy. CASE REPORT: We report a case of 10-year-old-girl, with no history. At the age of 9 years, the patient started experiencing repetitive events without fever. The first event consisted of several episodes of loss of consciousness with hypotonia and post ictal amnesia. The second type was three episodes of stereotyped, elaborated complex visual hallucinations, during 10 minutes. One month later, a third type of tonico-clonic generalized seizures appeared. Neurological examination and routine laboratory investigation were normal. Brain neuroimaging was normal. Interictal EEG showed bilateral discharges of slow generalized waves activated by hyperventilation. She has been treated by Sodium Valproate. All seizures stopped and she remained free of seizures. CONCLUSION: This epileptic syndrome must be identified, and treated without delay. In fact, without appropriate treatment, the evolution may lead to a continuous spike-wave during the sleep with cognitive deterioration.

Death in Unverricht-Lundborg disease.

The objective of this study is to report cases of unexpected deaths in Unverricht-Lundborg disease (ULD) patients, a comparatively benign form of progressive myoclonus epilepsy. We performed a multicentric study of the circumstances of death in ULD patients seen in the last 16 years. We assessed age, sex, severity and duration of disease, antiepileptic drugs, circumstances and presumed cause of death. Nineteen observations (12 females, 7 males) were collected from four centers (Tunis, Marseille, Milan, Belgrade). The most common causes of death are (1) SUDEP (six cases, all female), with 4/6 on phenobarbital alone, and (2) complications of severe ULD (six cases). Two patients committed suicide. Only one death was clearly unrelated to ULD (car accident), while four patients died of stroke, drowning, complications of chronic alcoholism and Wernicke encephalopathy, respectively. In conclusion, although the prognosis of ULD has progressed, there are still spontaneously severe forms and high risk of early death, including SUDEP.

Epilepsy surgery program in Tunisia, the Charles Nicolle Hospital experience.

BACKGROUND: Epilepsy surgery is the best treatment in case of intractable epilepsy. However, it is underused in developing countries, creating an enormous treatment gap. On 2006, an epilepsy surgery program was set up in the Neurological Department of Charles Nicolle Hospital, Tunis, Tunisia. AIM: To describe its establishment and to emphasize on its originality that is an exchange and surgery decision taken by two Neurological teams via the internet. METHODS: Patients underwent a phase 1 presurgical evaluation at the Neurological Department of Charles Nicolle Hospital of Tunis. It included a detailed clinical history, a neurological evaluation, brain MRI, a continuous video EEG scalp monitoring and a neuropsychological evaluation. RESULTS: According to the different electro clinical and radiological findings, the surgery indication was taken between the Neurological department of Charles Nicolle Hospital of Tunis and the Neurophysiological Department of Charles Nicolle Hospital in Rouen through the EUMEDCONNECT network project. ATL was performed and the four patients are actually seizure free. CONCLUSION: Epilepsy surgery is actually a possible treatment option in Tunisia and should be indicated in patients with intractable partial seizures.