Seizure

Epilepsy is a common chronic, neurological disorder and childhood epilepsies represent about 25% of the whole epilepsy population [1]. Modern advances in diagnostic technology, particularly in neuroimaging and molecular genetics, now permit better understanding of the pathophysiology of epilepsy. Defective ion transportor ion channel structure in the neuronal membrane, inhibitory–excitatory mechanisms, and regulatory modulator systems have been implicated in the pathogenesis of epilepsy [2–4]. Nowadays, increasing evidence suggest that oxidative stress is implicated in the underlying mechanism of epilepsy.

Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early onset epilepsy, intellectual disability and macrocephaly.

Epilepsy is a common disorder in children, with an incidence of 0.05-0,1% in developed countries (1) and a heterogeneous etiology. Within the etiology there is a high genetic contribution ranging from benign epilepsy syndromes to epileptic encephalopathies in children. New technologies such as next generation sequencing (NGS), allowing mutational screening of many more genes in parallel, led to major progress in the understanding of epilepsy syndromes, especially in children (2–4).

Thirteen years ago, we provided evidence for a unifying concept of idiopathic focal childhood epilepsies (IFCE): Rolandic epilepsy (RE), Panayiotopuolos syndrome (PS), Gastaut type childhood idiopathic occipital epilepsy,* Landau – Kleffner syndrome (LKS) and Electrical Status Epilepticus in Sleep (ESES) **. We treated them as a spectrum of disorders featured by a shared transient, age-dependent, genetically based, non-lesional and localized epileptic abnormality. The nature of this spectrum disorder is still not entirely clear.

We appreciated the Letter to the Editor by Professor Finsterer concerning our case report previously published in this Journal [1,2].

The analysis of clinical signs such as facial modifications (e.g. blinking, chewing, smacking), limb automatisms, ictal head turning and hand movements (e.g. hand dystonia, tapping, grabbing)  [1,2], may provide clues as to the cerebral networks underpinning the epilepsy. However, the study of these signs relies heavily on clinical experience and training. Given the importance of body motion patterns in the assessment of epilepsy, prior works have demonstrated that automated analysis of semiological patterns based on computer vision can support diagnosis ...

N-methyl-d-aspartate receptor encephalitis (NMDARE) is becoming a well-recognised cause of symptomatic seizures in the context of an encephalitic illness. Directly pathogenic anti-NMDA receptor antibodies bind to the glutamate subunit of the NMDA receptor, leading to receptor capping and internalisation [1–3]. Neuronal dysfunction in fronto-striatal connections and prefrontal networks, leads to the clinical symptom clusters including psychiatric features, movement disorders, autonomic disturbances and seizures.

Dravet syndrome (DS) is a rare and complex developmental encephalopathy characterised by refractory epilepsy, motor and cognitive impairments, and behavioural disorders (such as attention/hyperactivity symptoms, autistic traits, conduct problems and problems with peer relationships).[1–3] Families of children with DS report significant health and social burden, however, few studies have assessed the magnitude of this impact.[4]

Decompressive craniectomy is a life-saving procedure that can alleviate intractable raised intracranial pressure caused by various brain injuries including trauma, hemorrhage, or large cerebral infarctions. Seizures have been reported in 3-92% of patients who receive craniectomy, [1] and their occurrence has been associated with multiple underlying etiologies. Cranioplasty is an elective procedure for skull reconstruction after decompressive craniectomy, and it has been shown to improve both psychosocial and cognitive functions [2–5].

Epilepsy is a common chronic neurological condition affecting at least 50 million people globally [1]. People with epilepsy often experience stigma and discrimination because of the condition and as such, their social and personal expectations are often restricted[2]. The experience of stigma may even affect their quality of life even more than the medical condition itself[3]. Where people with epilepsy feel prevented from living an ordinary life due to stigma resulting from negative attitudes, this may be an internal perception ...