A Very Rare Form of Autosomal Dominant Progressive Myoclonus Epilepsy Caused by a Novel Variant in the PRICKLE1 Gene

Progressive myoclonus epilepsy (PME) comprises a group of rare heterogeneous genetic disorders that are generally manifested as a combination of myoclonic and tonic-clonic seizures with cognitive impairment, ataxia and other cerebellar signs, and other neurologic deficits. They are often encompassed under the broader term “catastrophic epilepsies”, which are invariably associated with significant neurological morbidity and often early mortality. This group also include epileptic encephalopathies [1].

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The Efficacy of a Pharmacist Implemented Educational Treatment Programme for People with Epilepsy: A Report of a Randomised Controlled Trial

Sociocultural attitudes continue to have a negative impact on the management of epilepsy in many African countries, including Nigeria [1]. The disorder is negatively affected by superstition, discrimination and stigma [2]. Religion as well as socio-cultural beliefs influences the nature of treatment and care received by people with epilepsy. It is believed that epilepsy results from witchcraft or possession by evil spirits and therefore treatment should be through the use of herbs from traditional doctors, fetish priests and religious leaders.

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Perampanel for the treatment of epilepsy; longitudinal actuarial analysis and dose responses based on monthly outcomes

Perampanel (PER), one of the newer antiepileptic drugs has a novel antiseizure mechanism acting as a non-competitive α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor antagonist [1]. It was licensed as add-on medication for refractory focal-onset seizures after conduction of 3 phase III double-blinded randomized clinical trials [2–4] followed by an open label extension with a follow-up reaching 4 years [5]. The initial clinical trials had a 6 week titration period and a 13 week follow-up period and showed high retention rates varying from ...

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Control of focal impaired awareness seizures with an oral appliance in a patient with sleep apnea

Focal impaired awareness seizure (FIAS) is a clinical phenomenon with a prevalence of 0.8% that manifests as epileptic discharges commonly located in the amygdala-hippocampal complex. It can cause visual delusions and olfactory, auditory, or affective hallucinations [1]. Obstructive sleep apnea (OSA) is common in patients with epilepsy [2]. Despite their limitations, some studies have revealed an important relationship between OSA and refractory epileptic seizures (RES), as well as between OSA improvement and a corresponding RES improvement with adequate continuous positive ...

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Incidence and risk factors of post-cranioplasty seizures

We read with great interest the systematic review by Spencer et al. [1] regarding the risk factors for the development of seizures after cranioplasty in patients that sustained traumatic brain injury. The authors have revealed a pooled incidence and risk factors of post-cranioplasty seizures (PCS). We really appreciate the interesting review for their conclusion, it’s very useful to have a better understanding of PCS. However, after reading this article, we would like to highlight 2 important questions that it raises.

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Unverricht-Lundborg Disease: Clinical Course and Seizure Management Based on the Experience of Polish Centers

Unverricht―Lundborg disease (ULD) is a type of autosomal recessive progressive myoclonus epilepsy (PME). The molecular basis for ULD involves mutations in the gene encoding cystatin B, a cysteine protease inhibitor. The gene is located on chromosome 21 at q22.3 [1]. This mutation leads to the multiplication of the C4GC4GCG minisatellite sequence repeats. The normal range of repeats is 2―3, with a premutation range of 12―17, and a causative disease range of 30―80 repeats. However, the number of repeats does not ...

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Seizures and Epilepsy Following Cranioplasty

We read with great interest the study by Shih et al [1] regarding the risk factors for seizures after cranioplasty. The article is well written and the authors have concluded that delayed cranioplasty procedures and seizures before cranioplasty were significantly associated with early post-cranioplasty seizures. We really appreciate the interesting research for their conclusion would believe it to be useful to make a treatment decision and prevent seizures in advance in cranioplasty patients. However, after reading this article, we would ...

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Risk of valproic acid-related alopecia: a systematic review and meta-analysis

Valproic acid (VPA) is the most commonly administered first-generation antiepileptic drug (AED) and is also useful for a variety of other diseases, including bipolar disorder (BD) [1,2], migraine headache (MA) [3–5] and neuropathic pain [6,7]. The side effects of antiepileptic drugs are often the main factors restricting treatment and drug retention for patients with epilepsy [8,9]. The clinical utility of VPA may be hindered by its adverse drug reactions (ADRs), such as tremors, weight gain, hair loss, gastrointestinal disturbances, heartburn, ...

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Underutilization of Epilepsy Surgery in ASEAN countries

Approximately 70 million people currently live with epilepsy worldwide [1]. The availability and accessibility of antiepileptic drugs has been an issue for developing countries. In Asia, the treatment gap has ranged from 28% to as high as 98% [2]. For those who received antiepileptic drugs, there were about one-third of patients who still continue to have seizures [3]. Patients with drug-resistant epilepsy are potential candidates for surgery especially those with surgically remediable syndrome, such as mesial temporal sclerosis or focal ...

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