Dataset Information

Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.

ABSTRACT: Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient's seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Seizures began during the neonatal period in 22 patients. Although seizures are quite severe in many patients later in life, seizure freedom was attainable in a minority of patients. Multiple patients' chronic seizure management included a few common medications, phenobarbital and valproic acid in particular. Patients EEGs had a relatively well-preserved background for age, even in the face of frequent seizures, little slowing and multiple normal EEGs and do not support an epileptic encephalopathy. Other causes for the motor and cognitive delay beyond epilepsy warrant further study.

SUBMITTER: Yang QZ

PROVIDER: S-EPMC7281881 | biostudies-literature | 2020 Jan-Dec

REPOSITORIES: biostudies-literature

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Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.

Yang Qian-Zhou QZ Spelbrink Emily M EM Nye Kimberly L KL Hsu Emily R ER Porter Brenda E BE

Child neurology open 20200101

Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient's seizure burden, semiology, and electroencephalography (EEG) findings have not been well characterized. Data on 23 patients, 3 months to 29 years of age are reported. Seizures began during the neonatal period in 22 patients. Although seizures are quite severe in many patients later ...[more]

PMID: 32551328

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Project description:ObjectiveElectroencephalography (EEG) can identify biomarkers of epileptogenesis and ictogenesis. However, few studies have used EEG in the prediction of poststroke seizures. Our primary aim was to evaluate whether early EEG abnormalities can predict poststroke epilepsy.MethodsA prospective study of consecutive acute anterior circulation ischemic stroke patients, without previous epileptic seizures, who were admitted to a stroke unit over 24 months and followed for 1 year. All patients underwent standardized clinical and diagnostic assessment during the hospital stay and after discharge. Video-EEG was performed in the first 72 h (first EEG), daily for the first 7 days, in case of neurological deterioration, at discharge, and at 12 months after stroke. The occurrence of epileptic seizures in the first year after stroke (primary outcome) was evaluated clinically and neurophysiologically during the hospital stay and at 12 months. A telephone interview was also performed at 6 months. The primary outcome was the occurrence of at least one unprovoked seizure (poststroke epilepsy). Secondary outcomes were the occurrence of at least one acute symptomatic seizure and (interictal and/or ictal) epileptiform activity on at least one EEG during the hospital stay for acute stroke. The first EEG variables were defined using international criteria/terminology. Bivariate and multivariate analyses with adjustment for age, admission National Institutes of Health Stroke Scale (NIHSS) score, and Alberta Stroke Program Early CT Score (ASPECTS) were performed.ResultsA total of 151 patients were included; 38 patients (25.2%) had an acute symptomatic seizure and 23 (16%) had an unprovoked seizure.The first EEG background activity asymmetry and first EEG with interictal epileptiform activity were independent predictors of poststroke epilepsy during the first year after stroke (P = 0.043 and P = 0.043, respectively). No EEG abnormality independently predicted acute symptomatic seizures. However, the presence of periodic discharges on the first EEG was an independent predictor of epileptiform activity (p = 0.009) during the hospital stay.SignificanceAn early poststroke EEG can predict epilepsy in the first year after stroke, independently from clinical and imaging-based infarct severity.

Project description:EEG source imaging is becoming widely used for the evaluation of medically refractory focal epilepsy. The validity of EEG source imaging has been established in several studies comparing source imaging to the surgical resection cavity and subsequent seizure freedom. We present a cohort of 87 patients and compare EEG source imaging of both ictal and interictal scalp EEG to the seizure onset zone on intracranial EEG. Concordance of EEG source imaging with intracranial EEG was determined on a sublobar level and was quantified by measuring the distance between the source imaging result and the centroid of the active seizure onset zone electrodes. The EEG source imaging results of a subgroup of 26 patients with high density 76-channel EEG were compared with the localization of three experienced epileptologists. Of 87 patients, 95% had at least one analysis concordant with intracranial EEG and 74% had complete concordance. There was a higher rate of complete concordance in temporal lobe epilepsy compared to extratemporal (89.3 and 62.8%, respectively, P = 0.015). Of the total 282 analyses performed on this cohort, higher concordance was also seen in temporal discharges (95%) compared to extratemporal (77%) (P = 0.0012), but no difference was seen comparing high-density EEG with standard (32-channel) EEG. Subgroup analysis of ictal waveforms showed greater concordance for ictal spiking, compared with rhythmic activity, paroxysmal fast activity, or obscured onset. Median distances from the dipole and maximum distributed source to a centroid of seizure onset zone electrodes were 30.0 and 32.5 mm, respectively, and the median distances from dipole and maximum distributed source to nearest seizure onset zone electrode were 22.8 and 21.7, respectively. There were significantly shorter distances in ictal spiking. There were shorter distances in patients with Engel Class 1 outcome from surgical resection compared to patients with worse outcomes. For the subgroup of 26 high-density EEG patients, EEG source localization had a significantly higher concordance (92% versus 65%), sensitivity (57% versus 35%) and positive predictive value (60% versus 36%) compared with epileptologist localization. Our study demonstrates good concordance between ictal and interictal source imaging and intracranial EEG. Temporal lobe discharges have higher concordance rates than extratemporal discharges. Importantly, this study shows that source imaging has greater agreement with intracranial EEG than visual review alone, supporting its role in surgical planning.

Dataset Information

Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.

Publications

Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder.

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