EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome)

Moeller, Friederike; Groening, Kristina; Moehring, Jan; Muhle, Hiltrud; Wolff, Stephan; Jansen, Olav; Stephani, Ulrich; Siniatchkin, Michael

doi:10.1212/wnl.0000000000000359

Cited by 18 publications

(12 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Intriguingly, the cortical networks observed in GLUT1DS patients are very similar to the one described, by means of EEG-fMRI, in patients with ‘Doose syndrome’ or Myoclonic Astatic Epilepsy (MAE) (Moeller et al, 2014). This commonality is of particular interest since MAE has been reported as one of the possible phenotypes of GLUT1DS (Mullen et al, 2011).…”

Section: Discussionsupporting

confidence: 65%

“…This commonality is of particular interest since MAE has been reported as one of the possible phenotypes of GLUT1DS (Mullen et al, 2011). With respect to the BOLD findings previously reported in MAE (Moeller et al, 2014), and more in general to GGE sub-syndromes, our GLUT1 population didn't show any increase in BOLD signal at thalamic level and no decreases in the Default Mode Network (DMN) at a group level. By contrast, GLUT1DS revealed bilateral activation in the putamen and different premotor and parietal areas (Fig.…”

Section: Discussionsupporting

confidence: 58%

See 1 more Smart Citation

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Vaudano

Olivotto

Ruggieri

et al. 2017

NeuroImage: Clinical

View full text Add to dashboard Cite

PurposeTo provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS).MethodsEighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided.ResultsEEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli.ConclusionThe BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder.

show abstract

Section: Discussionsupporting

confidence: 65%

Section: Discussionsupporting

confidence: 58%

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Vaudano

Olivotto

Ruggieri

et al. 2017

NeuroImage: Clinical

View full text Add to dashboard Cite

show abstract

“…Several studies in Lennox–Gastaut syndrome (173–175) have shown hemodynamic involvement of brainstem, thalamus, and basal ganglia during paroxysmal fast activity and slow spike-and-wave discharges, underlying the importance of cortical–subcortical networks in Lennox–Gastaut syndrome. A group-analysis study in patients with myoclonic-astatic-epilepsy (176) showed that GSWD are related not only to a thalamo-cortical network (commonly found in IGE), but also to brain areas associated with motor function, suggesting that the involvement of these structures may predispose to the typical myoclonic jerks observed in this syndrome.…”

Section: Evidence For Brain Network Involved In Epileptic Activitymentioning

confidence: 99%

Mapping Epileptic Activity: Sources or Networks for the Clinicians?

Pittau¹,

Mégevand

Sheybani

et al. 2014

Front. Neurol.

View full text Add to dashboard Cite

Epileptic seizures of focal origin are classically considered to arise from a focal epileptogenic zone and then spread to other brain regions. This is a key concept for semiological electro-clinical correlations, localization of relevant structural lesions, and selection of patients for epilepsy surgery. Recent development in neuro-imaging and electro-physiology and combinations, thereof, have been validated as contributory tools for focus localization. In parallel, these techniques have revealed that widespread networks of brain regions, rather than a single epileptogenic region, are implicated in focal epileptic activity. Sophisticated multimodal imaging and analysis strategies of brain connectivity patterns have been developed to characterize the spatio-temporal relationships within these networks by combining the strength of both techniques to optimize spatial and temporal resolution with whole-brain coverage and directional connectivity. In this paper, we review the potential clinical contribution of these functional mapping techniques as well as invasive electrophysiology in human beings and animal models for characterizing network connectivity.

show abstract

“…A potential corroboration of EMAs belonging to the spectrum of epileptic encephalopathies may derive from the recent development of functional neuroimaging. In particular, an EEG‐fMRI study on patients with EMAs showed that the discharges associated with generalized spike‐waves (GSWs) were associated with evidence of metabolic changes in the thalamo‐cortical network, commonly found in generalized epilepsies, as well as brain structures associated with motor function, such as the putamen and the premotor cortex (Moeller et al ., ). Interestingly, the brainstem was also deactivated in relation to GSWs, presented by two of the 11 patients studied.…”

Section: Discussionmentioning

confidence: 97%

Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome)

Pittau

Korff

Nordli

2016

Epileptic Disorders

View full text Add to dashboard Cite

Aim. To describe the occurrence of epileptic spasms in epilepsy with myoclonic‐atonic seizures (EMAS) or Doose syndrome. Methods. Case descriptions of patients with EMAS and epileptic spasms. Diagnosis of EMAS was performed according to the following criteria: (1) onset of myoclonic, myoclonic‐atonic, or atonic seizures at between 7 months and 6 years of age; (2) normal development before onset of epilepsy; (3) absence of structural cerebral abnormalities on MRI; (4) presence of generalized spike‐waves or polyspike‐waves on EEG; and (5) exclusion of other myoclonic epilepsies. Results. Four patients with EMAS were included. For each of them, epileptic spasms were documented by video interpretation, or video‐EEG when available. Conclusions. Our description of epileptic spasms in four patients with EMAS enlarges the spectrum of seizures that may be observed in this syndrome, as well as the number of epilepsy syndromes which may involve epileptic spasms. This evidence suggests that the presence of epileptic spasms is consistent with a diagnosis of EMAS; epileptic spasms should therefore not be considered a seizure type that excludes diagnosis of this epilepsy syndrome. The prognostic significance of epileptic spasms associated with EMAS remains unknown.

show abstract

EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome)

Cited by 18 publications

References 35 publications

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

Mapping Epileptic Activity: Sources or Networks for the Clinicians?

Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome)

Contact Info

Product

Resources

About