Seizure

The CNOT3 gene (OMIM #604910) has been linked to intellectual disability, speech delay, autism and dysmorphic facies. Till now, only 22 cases with CNOT3-related developmental disease have been reported. In this study, we present a pair of identical twins with developmental delays, ankylosing spondylitis and epilepsy due to de novo CNOT3 variants. Our report expands the phenotypic-genotypic spectrum of CNOT3-related disorders and emphasizes the role of CNOT3 as a cause of developmental epileptic encephalopathy.

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: Stereo-electroencephalography (SEEG) and magnetoencephalography (MEG) have generally been used independently as part of the pre-surgical evaluation of drug-resistant epilepsy (DRE) patients. However, the possibility of simultaneously employing these recording techniques to determine whether MEG has the potential of offering the same information as SEEG less invasively, or whether it could offer a greater spatial indication of the epileptogenic zone (EZ) to aid surgical planning, has not been previously evaluated.

Although mental health difficulties are common in people with epilepsy, their assessment and treatment are rarely incorporated into routine medical care, with detrimental effects on quality of life. Several barriers to access traditional face to face interventions have been identified, including travel restriction and shortage of appropriately trained mental health clinicians. Digital mental health interventions offer the potential to improve access to mental health treatment. The main aim of the present study is to systematically review the empirical literature to ...

Levetiracetam (LEV) is one of the most commonly prescribed antiseizure medications (ASM) worldwide for several epilepsy syndromes and diverse clinical scenarios [1,2]. This may be related to this medication’s favorable pharmacokinetic and tolerability profiles – especially if compared with first-generation ASMs such as valproate (VPA), carbamazepine (CBZ), and phenytoin (PHE) [3,4]. It may be reasonable to consider that these advantages inherent to LEV may have led to its excessive use in clinical practice [5].

Epilepsy is one of the most prevalent chronic neurological diseases and is characterized by unprovoked, irregular, and recurrent seizures. Epilepsy affects approximately 50 million people of all ages worldwide, and patients commonly suffer from stigma and discrimination [1]. Over the past decade, many government agencies and professional researchers have developed quality indicators for several fields to improve clinical care and to better meet patient expectations [2]. The American Academy of Neurology (AAN) has developed a set of standardized quality measures ...

“Suppose that each of us has made the outcome as good as he can, given what the others did. Each has then acted rightly. But we together may have acted wrongly. This will be so if we together could have made the outcome better” – Derek Parfit,’Five mistakes in moral mathematics’ [1]

Approximately 30% of patients with epilepsy have seizures that are refractory to anti-seizure medications (ASMs) [1–3]. The ketogenic diet (KD), a high-fat and low-carbohydrate diet, is effective for a subset of such patients [4,5]. Although the mechanism of the KD efficacy for epilepsy has not been fully elucidated, multiple mechanisms have been proposed and they may manifest anti-seizure effects in combination [6,7]. Recently, lactate dehydrogenase (LDH) inhibitors have been demonstrated to be a potential new target of ASMs based on ...

Knight and colleagues must be commended for their cross-sectional study from the UK Epilepsy and Pregnancy Register evidencing that children exposed to topiramate in utero had poorer levels of adaptive behaviour with a dose response effect [1].

Sturge-Weber Syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a rare neurocutaneous syndrome caused by a somatic mutation in the GNAQ gene [1]. The incidence of SWS is 1:50,000, and it affects both sexes equally [2]. The characteristic hallmarks of the disease include 1) unilateral facial nevus, 2) dural and leptomeningeal angiomatosis, 3) hemangiomas of the choroid, and 4) congenital glaucoma [3,4]. However, these findings may not always be present in patients; and although often viewed as a single pathologic ...