Photosensitivity in epilepsy is common and has high heritability, but its genetic basis remains uncertain. Galizia et al. reveal an overrepresentation of unique variants of CHD2 — which encodes the transcriptional regulator ‘chromodomain helicase DNA-binding protein 2’ — in photosensitive epilepsies, and show that chd2 knockdown in zebrafish causes photosensitivity.

BackgroundThe emergence of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated recognition of microdeletions and microduplications as risk factors for both generalised and focal epilepsies. Furthermore, there is evidence that some microdeletions/duplications, such as the 15q13.3 deletion predispose to a range of neuropsychiatric disorders, including intellectual disability (ID), autism, schizophrenia and epilepsy.We hypothesised that array CGH would reveal relevant findings in an adult patient group with epilepsy and complex phenotypes.Methods82 patients (54 from the National Hospital for Neurology and Neurosurgery and 28 from King’s College Hospital) with drug-resistant epilepsy and co-morbidities had array CGH. Separate clinicians ordered array CGH and separate platforms were used at the two sites.ResultsIn the two independent groups we identified copy number variants judged to be of pathogenic significance in 13.5% (7/52) and 20% (5/25) respectively, noting that slightly different selection criteria were used, giving an overall yield of 15.6%. Sixty-nine variants of unknown significance were also identified in the group from the National Hospital for Neurology and Neurosurgery and 5 from the King’s College Hospital patient group.ConclusionWe conclude that array CGH be considered an important investigation in adults with complicated epilepsy and, at least at present for selected patients, should join the diagnostic repertoire of clinical history and examination, neuroimaging, electroencephalography and other indicated investigations in generating a more complete formulation of an individual’s epilepsy.

Epileptic seizures are a common cause for presentation to acute medical services. Whether presenting with an isolated, unprovoked seizure or with status epilepticus, a good understanding of seizures and their mimics ensures appropriate investigation and treatment. This article describes the practical aspects of the management of patients presenting with seizures to the emergency department or the acute medical unit. ABSTRACT may be associated with a high mortality rate, likely reflecting a high-risk subgroup of patients 5 and not uncommonly presents with myoclonic jerks, head turning, and other motor phenomena often associated with epileptic seizures; 6 Sheldon et al , 7 proposed a series of questions that they demonstrated would distinguish seizures from syncope with 94% sensitivity and specificity (see Table 1). Raised prolactin (within 30 min) or lactate following loss of consciousness can contribute to the distinction between bilateral tonic-clonic seizures and syncope or a non-epileptic attack, but are less helpful in the differentiation of non-convulsive episodes and are generally not recommended. 8,9 Where the history is lacking, atypical, or inconclusive, early involvement of specialists experienced in the investigation and management of T-LOC improves diagnosis. 10 First seizures According to the National Institute for Health and Care Excellence (NICE) guidance, 11 anyone with a suspected first seizure should be referred for specialist assessment and seen within 2 weeks. Most patients with a single selfterminating seizure who have made a full recovery can be managed as outpatients through local first-seizure pathways.

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