Seizure

Status epilepticus (SE) is a neurological emergency with severe consequences especially in elderly with other co-morbidities (1). SE has a bimodal distribution with the highest incidence in children <1 year and adults older than 60 years (2,3). Generalized convulsive status epilepticus (GCSE) is the most common and life-threatening type of SE with an overall mortality of around 20%. Mortality is higher in the elderly being 30% to 70% (4,5).

Status epilepticus (SE) is defined as continuation of seizures for more than 5 minutes [1] and is a medical emergency that requires immediate assessment and treatment [2]. Subdivision of stages of SE have been defined depending on the degree of response to treatment and duration of treatment needed. The ILAE’s classification [1] defines two ‘operational dimensions’, being the intial seizure duration requiring treatment (T1) of five minutes, and the seizure duration associated with neurological sequelae (T2) of 30 minutes.

Healthcare organisations in the UK primarily measure clinical activity from data collected on numbers of attendances at outpatient clinics, inpatient admissions and procedures performed etc. Telephone contacts with patients are not typically measured as clinical activity. This service evaluation examines the utility and value of the Epilepsy Specialist Nurse (ESN) within an innovative ‘Open Access Model’, giving a breakdown of clinical workload and outcomes.

We describe the novel phenotypic features of an adult male patient carrying a p.Arg297Gln (c.890 G > A) mutation of the KCNA2 gene encoding the voltage-gated potassium channel KV1.2. This mutation has been previously reported in patients presenting with epileptic encephalopathy (MIM # 616366) and early-onset polymorphic seizures [1–3] but, unlike the other cases, the clinical aspects of our patient included prominent and worsening action myoclonus consistent with progressive myoclonus epilepsy (PME).

Cerebral palsy (CP) refers to a group of non-progressive motor disorders secondary to lesions or anomalies of the developing brain [1].It has a reported prevalence of approximately 1.5–3 per 1,000 [2]. There is a high association between CP and epilepsies. Epilepsies affect between 15 -55% of children and adults with CP, compared with 3 -6 per 1000, in the general childhood population [3]. Children with CP are prone to many types of seizures and epilepsy syndromes. In most children, epilepsy ...

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.