A pathway to precision therapy even for mitochondrial myoclonic epilepsy

We thank Finsterer and colleagues [1] for their comments on our proposal for a therapeutic strategy in patients with Progressive Myoclonus Epilepsy (PME) [2]. We agree that valproic acid (VPA) should not be recommended as a first-line anti-seizure drug in myoclonic epilepsies secondary to mitochondrial disorders (MIDs), as universally accepted in the Literature [3–6]. In patients with suspected MID, we propose levetiracetam and/or benzodiazepines as first-line treatment whereas lamotrigine, perampanel, topiramate, and zonisamide should be considered as potential alternatives (Fig.

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Comparison between the Neurological Disorders Depression Inventory for Epilepsy and the Patient Health Questionnaire-9 in patients with epilepsy according to antiepileptic drug load

Depression is common in patients with epilepsy (PWE): the prevalence of depression in PWE is about five times higher than in the general population [1,2]. The pathophysiological and psychosocial features of epilepsy put individuals at greater risk of depression, and conversely, depression has an adverse effect on epilepsy [3]. Depression is significantly associated with drug-resistant epilepsy and poor quality of life [4,5]. Together with depression, suicide is also a serious problem in PWE. The suicide rate in PWE is about ...

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Mitochondrial myoclonic epilepsy requires specific treatment

With interest we read the review article by Orsini et al. about myoclonic epilepsy in Unverricht-Lundborg disease, Lafora disease, neuronal ceroid lipofuscinoses, myoclonus epilepsy with ragged-red fibers (MERRF), and sialidoses type 1 and 2 [1]. The authors recommend valproic acid (VPA) as first choice for myoclonic epilepsy irrespective of the underlying cause followed by lamotrigine (LTG), primidone (PRM), phenobarbital (PB), and levetiracetam (LEV) [1]. Other anti-seizure drugs (ASD) that can be considered for myoclonic epilepsy include topiramate (TPM), zonisamide (ZNS), ...

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Parent reported Health Related Quality of Life (HRQoL) and behaviour in young people with epilepsy before and two years after epilepsy surgery

Epilepsy in children is often associated with emotional and behavioural difficulties [1,2] which have a negative impact on the child’s education [3] and family functioning [4], leading to reduced Health Related Quality of Life (HRQoL).Emotional and behavioral difficulties in childhood have a very significant negative impact on a child’s functioning including on the child’s education and social difficulties leading to significant deficits in the child’s Health Related Quality of Life (HRQoL) [5,6].

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De novo Absence Status Epilepticus in a pediatric cohort: electroclinical pattern in a multicentre Italian patient cohort

Absence Status epilepticus (AS) is a form of Non Convulsive Status Epilepticus defined as a prolonged, generalized and non-convulsive seizure, with an altered content of consciousness. We aim to describe a group of healthy children, who present recurrent and unprovokedde novo AS as the only manifestation of their epilepsy, with an excellent response to antiepileptic drugs.

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Mindfulness-Based Cognitive Therapy for Sexuality (MBCT-S) improves sexual functioning and intimacy among older women with epilepsy: A multicenter randomized controlled trial

Women with epilepsy (WWE) as compared with the general female population have higher estimates of sexual dysfunction (75.3% vs. 12.0%) [1–2]. Different reasons for sexual dysfunction among WWE have been proposed, including decreased libido, problems with arousal and infrequent orgasms, earlier onset of menopause, adverse effects of certain antiepileptic drugs (AEDs), anxiety, and stigmatization [3–7]. Given that sexuality is an important component of quality of life (QoL) [8] and is viewed as a central part of an individual’s life [9], ...

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New-onset super refractory status epilepticus: a case-series

Status epilepticus (SE) represents a neurological emergency that requires urgent treatment and rapid escalation of care if symptoms do not subside within a short time from onset [1]. The progression to Refractory Status Epilepticus (RSE) is reported in 40% of SE cases (Rossetti and Lowenstein. 2011), often requiring intravenous anaesthetic treatment (IVAT) and critical care admission [2]. RSE, though, still associates with substantial morbidity and mortality [3–5].

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Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Epilepsy, conventionally classified as idiopathic by etiology in up to 70 % of the cases, has started to reveal its genetic roots with the advent of widely available genetic testing [1]. The majority of the genes identified as disease causing mutation encode ion channels or receptors including voltage-gated sodium, potassium, calcium and chloride channels; additionally, receptors for acetylcholine and γ-amino butyric acid (GABA) [2]. The most widely investigated association is between SCN1A mutations (OMIM 182389) with Dravet syndrome (DS) (OMIM ...

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Autism spectrum disorder in children and young people with non-epileptic seizures

Non-epileptic seizures (NES) are paroxysmal events which to an observer resemble epileptic seizures, but do not have the electrophysiological correlates of epilepsy. NES are regarded as psychogenic in origin, but the diagnosis can be made without requiring identification of a psychological stressor [1]. Semiology can vary greatly between patients and a range of alternative names are used for the disorder [2].

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