Seizure

Most epileptic seizures have a postictal state, an abnormal condition characterized by impaired consciousness, sensory, motor, cognitive function, or emotions that lasts from the end of the seizures until the return to the presumed baseline [1,2]. The mechanisms of the postictal state are poorly understood, although electrophysiological changes in the brain and cerebral blood flow alterations are thought to be involved in the mechanisms [2,3].

Epilepsy is characterized by recurrent seizures [1]. It is the second most common neurological condition in China with a prevalence of around 0.7%; this translates into just over 9 million people with epilepsy among whom an estimated 6 million have active epilepsy [2]. People affected by epilepsy have a significantly worse quality of life as well as more compromised physical and psychological health levels than the general population [3,4].

Epilepsy with auditory features (EAF) is a heterogeneous clinico-molecular syndrome, with or without bilateral tonic-clonic seizures, featured by seizures with auditory symptoms suggesting lateral temporal-lobe origin [1,2]. The aetiology underlying EAF is considered to be associated with specific genes because autosomal-dominant EAF has been reported extensively, and mutations mainly in the leucine-rich glioma-inactivated protein 1 (LGI1) gene were detected [3,4]. About 50% of autosomal-dominant EAF families and <2% of sporadic cases have LGI1 gene mutations [5].

Generalized tonic-clonic, as well as focal to bilateral tonic-clonic seizures (TCSs) may lead to traumatic injuries and represent a major risk factor for sudden unexpected death in epilepsy (SUDEP), which, in turn, accounts for 10-50% of all deaths in the epilepsy population. [1,2] High frequency of TCSs is also associated with significant psychosocial disability and quality of life impairment [3,4].

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 ...