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BACKGROUND AND OBJECTIVES: The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants. METHODS: This is a retrospective multicenter study where we performed a descriptive analysis and classical hypothesis testing. We included the variables of interest significantly associated with the outcomes in the generalized linear models. RESULTS: Two main phenotypes were associated with brain somatic SLC35A2 variants: (1) early epileptic encephalopathy (EE, 39 patients) with epileptic spasms as the predominant seizure type and moderate to severe intellectual disability and (2) drug-resistant focal epilepsy (DR-FE, 8 patients) associated with normal/borderline cognitive function and specific neuropsychological deficits. Brain MRI was abnormal in all patients with EE and in 50% of those with DR-FE. Histopathology review identified mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy in 44/47 patients and was inconclusive in 3. The 47 patients harbored 42 distinct mosaic SLC35A2 variants, including 14 (33.3%) missense, 13 (30.9%) frameshift, 10 (23.8%) nonsense, 4 (9.5%) in-frame deletions/duplications, and 1 (2.4%) splicing variant. Variant allele frequencies (VAFs) ranged from 1.4% to 52.6% (mean VAF: 17.3 ± 13.5). At last follow-up (35.5 ± 21.5 months), 30 patients (63.8%) were in Engel Class I, of which 26 (55.3%) were in Class IA. Cognitive performances remained unchanged in most patients after surgery. Regression analyses showed that the probability of achieving both Engel Class IA and Class I outcomes, adjusted by age at seizure onset, was lower when the duration of epilepsy increased and higher when postoperative EEG was normal or improved. Lower brain VAF was associated with improved postoperative cognitive outcome in the analysis of associations, but this finding was not confirmed in regression analyses. DISCUSSION: Brain somatic SLC35A2 gene variants are associated with 2 main clinical phenotypes, EE and DR-FE, and a histopathologic diagnosis of MOGHE. Additional studies will be needed to delineate any possible correlation between specific genetic variants, mutational load in the epileptogenic tissue, and surgical outcomes.

MeSH
elektroencefalografie MeSH
epilepsie * genetika chirurgie diagnóza MeSH
lidé MeSH
mozek diagnostické zobrazování chirurgie patologie MeSH
refrakterní epilepsie * genetika chirurgie patologie MeSH
retrospektivní studie MeSH
výsledek terapie MeSH
záchvaty patologie MeSH
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lidé MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
práce podpořená grantem MeSH
Research Support, N.I.H., Extramural MeSH

Článek

Interictal high-frequency oscillations, spikes, and connectivity profiles: A fingerprint of epileptogenic brain pathologies

Epilepsia. 2023 ; 64 (11) : 3049-3060. [pub] 20230905

ISSN 1528-1167
Medvik
Zdroj

OBJECTIVE: Focal cortical dysplasia (FCD), hippocampal sclerosis (HS), nonspecific gliosis (NG), and normal tissue (NT) comprise the majority of histopathological results of surgically treated drug-resistant epilepsy patients. Epileptic spikes, high-frequency oscillations (HFOs), and connectivity measures are valuable biomarkers of epileptogenicity. The question remains whether they could also be utilized for preresective differentiation of the underlying brain pathology. This study explored spikes and HFOs together with functional connectivity in various epileptogenic pathologies. METHODS: Interictal awake stereoelectroencephalographic recordings of 33 patients with focal drug-resistant epilepsy with seizure-free postoperative outcomes were analyzed (15 FCD, 8 HS, 6 NT, and 4 NG). Interictal spikes and HFOs were automatically identified in the channels contained in the overlap of seizure onset zone and resected tissue. Functional connectivity measures (relative entropy, linear correlation, cross-correlation, and phase consistency) were computed for neighboring electrode pairs. RESULTS: Statistically significant differences were found between the individual pathologies in HFO rates, spikes, and their characteristics, together with functional connectivity measures, with the highest values in the case of HS and NG/NT. A model to predict brain pathology based on all interictal measures achieved up to 84.0% prediction accuracy. SIGNIFICANCE: The electrophysiological profile of the various epileptogenic lesions in epilepsy surgery patients was analyzed. Based on this profile, a predictive model was developed. This model offers excellent potential to identify the nature of the underlying lesion prior to resection. If validated, this model may be particularly valuable for counseling patients, as depending on the lesion type, different outcomes are achieved after epilepsy surgery.

MeSH
elektroencefalografie metody MeSH
epilepsie * diagnóza chirurgie MeSH
lidé MeSH
mozek diagnostické zobrazování chirurgie MeSH
refrakterní epilepsie * diagnostické zobrazování chirurgie MeSH
stereotaktické techniky MeSH
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lidé MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Spatio-temporal spike dynamics predict surgical outcome in adult focal epilepsy

Clinical neurophysiology. 2022 ; 134 (-) : 88-99. [pub] 20211216

Clin Neurophysiol
ISSN 1872-8952
Medvik
Zdroj

OBJECTIVE: We hypothesized that spatio-temporal dynamics of interictal spikes reflect the extent and stability of epileptic sources and determine surgical outcome. METHODS: We studied 30 consecutive patients (14 good outcome). Spikes were detected in prolonged stereo-electroencephalography recordings. We quantified the spatio-temporal dynamics of spikes using the variance of the spike rate, line length and skewness of the spike distribution, and related these features to outcome. We built a logistic regression model, and compared its performance to traditional markers. RESULTS: Good outcome patients had more dominant and stable sources than poor outcome patients as expressed by a higher variance of spike rates, a lower variance of line length, and a lower variance of positive skewness (ps < 0.05). The outcome was correctly predicted in 80% of patients. This was better or non-inferior to predictions based on a focal lesion (p = 0.016), focal seizure-onset zone, or complete resection (ps > 0.05). In the five patients where traditional markers failed, spike distribution predicted the outcome correctly. The best results were achieved by 18-h periods or longer. CONCLUSIONS: Analysis of spike dynamics shows that surgery outcome depends on strong, single and stable sources. SIGNIFICANCE: Our quantitative method has the potential to be a reliable predictor of surgical outcome.

MeSH
dospělí MeSH
elektroencefalografie MeSH
epilepsie parciální patofyziologie chirurgie MeSH
lidé středního věku MeSH
lidé MeSH
mapování mozku MeSH
mladý dospělý MeSH
modely neurologické MeSH
mozek patofyziologie chirurgie MeSH
mozkové vlny fyziologie MeSH
neurochirurgické výkony MeSH
prognóza MeSH
refrakterní epilepsie patofyziologie chirurgie MeSH
výsledek terapie MeSH
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dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mladý dospělý MeSH
mužské pohlaví MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Bilaterální amauróza jako vzácná komplikace obstrukčního hydrocefalu [Bilateral amaurosis as a rare complication of an obstructive hydrocephalus]

Česká a slovenská neurologie a neurochirurgie. 2022 ; 85 (2) : 187-188.

ISSN 1210-7859
Medvik
Zdroj

MeSH
cysty komplikace MeSH
dospělí MeSH
hydrocefalus * chirurgie diagnóza komplikace MeSH
kortikální slepota * etiologie MeSH
lidé MeSH
mozek chirurgie patologie MeSH
neurozobrazování metody MeSH
výsledek terapie MeSH
Check Tag
dospělí MeSH
lidé MeSH
mužské pohlaví MeSH
Publikační typ
kazuistiky MeSH

Článek

Selective internal carotid artery cross-clamping increases the specificity of cerebral oximetry for indication of shunting during carotid endarterectomy

Acta neurochirurgica. 2021 ; 163 (6) : 1807-1817. [pub] 20201027

Acta Neurochir
ISSN 0942-0940
Medvik
Zdroj

BACKGROUND: An indication for selective shunting during carotid endarterectomy (CEA) is based on monitoring during a procedure. Cerebral oximetry (CO) using near-infrared spectroscopy (NIRS) may be a simple technique, but its relevance during CEA, especially with respect to cutoff values indicating shunt implantation, still needs to be elucidated. METHODS: One hundred twenty five patients underwent CEA under local anesthesia (LA) and were monitored clinically throughout the whole procedure. The patients were also monitored using bilateral NIRS probes during surgery. The NIRS values were recorded and evaluated before and after selective cross-clamping, firstly by the external carotid artery (ECA), followed by the internal carotid artery (ICA). The decrease in the ipsilateral CO values, with respect to the indication of shunting, was only analyzed after selective cross-clamping of the ICA. The decision to use an intraluminal shunt was solely based on the neurological status evaluation after ICA cross-clamping. RESULTS: One hundred five patients (85%) were stable throughout the CEA, while 20 patients (15%) clinically deteriorated during surgery. The mean drop in the CO after selective ICA clamping in clinically stable patients was 6%, while in patients with clinical deterioration, the NIRS decreased by 14.5% (p < 0.05). When the cutoff value for selective shunting was set as a 10% decrease of the ipsilateral CO after selective ICA clamping, the sensitivity of the technique was 100% and the specificity 83.0%. CONCLUSIONS: Our study showed that a 10% decrease in the ipsilateral brain tissue oximetry after selective cross-clamping the ICA provides a reliable cutoff value for selective shunting during CEA. Despite the availability of a variety of monitoring tools, the NIRS may be an easy, reliable option, especially in the scenario of acute CEA in general anesthesia.