Bilateral periventricular nodular heterotopia and cortical dysplasia due to filamin 1 gene mutation: An invasive <scp>EEG</scp> exploration and histopathologic study

Poulen, Gaëtan; Mercedes‐Alvarez, Blanca; Rigau, Valérie; Coubes, Philippe

doi:10.1002/epd2.20177

Cited by 1 publication

(1 citation statement)

References 10 publications

(17 reference statements)

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“…This could be due to the heterogenicity in patients with NH‐related drug‐resistant epilepsy, with significant variability in the location, the number of NHs, the epilepsy duration before SEEG, and the type of seizures. Also, notable, some genetic factors can contribute to the observed heterogeneity: apart from animal model data, filamin 1 gene or NRAS mutation have been associated with NH 12–14 . A recent study has focused on morphological aspects of NH and associated cortical lesions using ultra‐high field MRI 15 .…”

Section: Discussionmentioning

confidence: 99%

Stereo‐EEG–based ictal functional connectivity in patients with periventricular nodular heterotopia–related epilepsy

Zanello,

Garnier,

Carron

et al. 2024

Epilepsia

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Nodular heterotopia (NH)–related drug‐resistant epilepsy is challenging due to the deep location of the NH and the complexity of the underlying epileptogenic network. Using ictal stereo‐electroencephalography (SEEG) and functional connectivity (FC) analyses in 14 patients with NH‐related drug‐resistant epilepsy, we aimed to determine the leading structure during seizures. For this purpose, we compared node IN and OUT strength between bipolar channels inside the heterotopia and inside gray matter, at the group level and at the individual level. At seizure onset, the channels within NH belonging to the epileptogenic and/or propagation network showed higher node OUT‐strength than the channels within the gray matter (p = .03), with higher node OUT‐strength than node IN‐strength (p = .03). These results are in favor of a “leading” role of NH during seizure onset when involved in the epileptogenic‐ or propagation‐zone network (50% of patients). However, when looking at the individual level, no significant difference between NH and gray matter was found, except for one patient (in two of three seizures). This result confirms the heterogeneity and the complexity of the epileptogenic network organization in NH and the need for SEEG exploration to characterize more precisely patient‐specific epileptogenic network organization.

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Section: Discussionmentioning

confidence: 99%