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latest research papers

Please find below a selection of the latest research papers from researchers at Epilepsy Society. The full versions of some papers may only be available through subscription. Where this is the case, the link will take you through to the abstract (summary) of the paper.

Activations in temporal areas using visual and auditory naming stimuli: A language fMRI study in temporal lobe epilepsy

This study looked at how best to predict impact on language skills for those undergoing epilepsy surgery in the anterior temporal lobe.

Verbal fluency functional MRI scans are used to predict impact on language skills after surgery in the temporal lobes. But this tends to activate the frontal lobes rather than the temporal lobes.

Our research showed that auditory and picture naming fMRI scans activated the temporal language networks and may therefore be better at predicting problems with word finding after surgery in this part of the brain. 

October 2016

Novel genetic loci underlying human intracranial volume identified through genome wide association (full paper available)

In a worldwide project of unprecedented scale (over 30,000 adults), we performed the largest ever meta-analysis of Genome Wide Association Studies (GWAS) of intracranial volume.

We discovered five previously unknown genetic loci (fixed positions on chromosomes) and confirmed two known signals, associated with intracranial volume.

We discovered evidence of a link between intracranial volume and other key traits such as height, cognitive function and Parkinson's disease.

This suggests that genes underlying brain development have far reaching effects that extend beyond the initial years of life. 

October 2016

Mandarin functional MRI language paradigms (full text available)

Chinese is one of the most commonly used languages in the world. One sixth (1.5 billion) of the world's population use Chinese as their mother tongue. Chinese characters differ from Western alphabet symbols. The relationship between Chinese spoken language and Chinese written language is very complex.

This means it is equally complex to use fMRI to investigate language networks in the brain for those using Chinese.

In this study we used Chinese language stimuli to explore activation patterns in Chinese people so as to investigate the potential of fMRI in Chinese patients considering temporal lobe surgery. The results can now be piloted in clinical trials. 

August 2016

Dynamics of convulsive seizure termination and post-ictal generalised EEG suppression

Seizures often happen at random times and almost always are self-terminating. We partly understand how they start but much less is known about how they stop. 

After a seizure, people are often unconscious or confused, as probably the brain is less active and this can be extreme after a convulsive seizure.

Extreme suppression of the brain activity (post-ictal generalized EEG suppression) was previously linked to an increased risk of SUDEP. It is currently unknown why the brain activity is suppressed after a seizure.

To understand this, we first created a computer model that simulated epileptic seizures and how they stop. This model provided hypotheses that were tested in EEG recordings of people with epilepsy at the time of seizures.

This showed that the duration of brain activity suppression can be predicted from the rhythmical movements during a seizure: the slower the rhythmical movements become at the end of a seizure, the longer the brain activity is suppressed after the seizure.

There may thus be a "brake" in the brain, which ensures that an epileptic attack stops by reducing the brain activity. Future research is needed to determine what this brake is and how it works and should allow for the study of potential triggers for SUDEP in computer models and as such is great improvement in previous methodology. This study shows how innovative computer models can help to identify crucial mechanisms that play a role in epilepsy.

(Bauer et al., Brain, 2017) January 2017

Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy

Epilepsy commonly presents in childhood as part of a syndrome, and some children may reach adult services without an underlying syndromic diagnosis.

For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management.

Young adults with learning difficulties are also challenging to investigate, as they may not tolerate standard epilepsy tests. This research presents a case in which simple tests identified a unifying diagnosis confirmed by genetics testing, which identified a mutation in the CCDS gene.

A diagnosis of guanidinoacetate methyltransferase (GAMT) deficiency was made, and the patient and a sibling started treatment with creatinine, a food supplement which had a significant impact on seizures and quality of life. 

January 2017

 

Nestin-expressing cell types in the temporal lobe and hippocampus: Morphology, differentiation, and proliferative capacity.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Treatment of epileptic encephalopathies.

DNM1 encephalopathy: A new disease of vesicle fission.

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.

Characterising subtypes of hippocampal sclerosis and reorganization: correlation with pre and postoperative memory deficit.

An examination of biochemical parameters and their association with response to ketogenic dietary therapies.

Impaired intracortical inhibition demonstrated in vivo in people with Dravet syndrome.

Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks.

Neuropathology of SUDEP: Role of inflammation, blood-brain barrier impairment, and hypoxia.

Pharmacogenomics in epilepsy.

Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe.

From unwitnessed fatality to witnessed rescue: Nonpharmacologic interventions in sudden unexpected death in epilepsy.

Imaging Biomarkers of Anti-Epileptic Drug Action: Insights from Magnetic Resonance Imaging.

A meta-analysis on progressive atrophy in intractable temporal lobe epilepsy: Time is brain?

Neuroinflammation imaging markers for epileptogenesis.

Clinical studies and anti-inflammatory mechanisms of treatments.

Test-retest reproducibility of quantitative binding measures of [11C]Ro15-4513, a PET ligand for GABAA receptors containing alpha5 subunits.

Effect of topiramate and zonisamide on fMRI cognitive networks.

Seizure detection and neuromodulation: A summary of data presented at the XIII conference on new antiepileptic drug and devices (EILAT XIII).

WONOEP appraisal: Imaging biomarkers in epilepsy.