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Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit beta3 Lead to
Neurodevelopmental Phenotype with and without Epilepsy and Ataxia.
Ann Neurol. 2025 Aug 23. doi: 10.1002/ana.78014.
PubMed
Abstract available
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A
Comprehensive Case Series.
Ann Neurol. 2025;98:561-572.
PubMed
Abstract available
Visual Features in Stereo-Electroencephalography to Predict Surgical Outcome: A
Multicenter Study.
Ann Neurol. 2025;98:547-560.
PubMed
Abstract available
Quality of life, depression, daytime sleepiness and fatigue in Omani people with
epilepsy: a cross-sectional study.
BMC Neurol. 2025;25:366.
PubMed
Abstract available
Alterations of GABAergic transmission in the hippocampus of aging
Krushinsky-Molodkina rats genetically prone to audiogenic seizures.
Brain Res. 2025;1863:149847.
PubMed
Abstract available
Presence of interictal epileptiform EEG discharges implies increased risk of
recurrence after the first unprovoked seizure: Report of the International League
Against Epilepsy and International Federation of Clinical Neurophysiology.
Epilepsia. 2025 Aug 28. doi: 10.1111/epi.18591.
PubMed
Abstract available
Exploratory study of peripheral immune changes associated with diffusion MRI
multi-compartment model in temporal lobe epilepsy.
Epilepsia. 2025 Aug 28. doi: 10.1111/epi.18612.
PubMed
Abstract available
Outcomes of surgically and non-surgically managed temporal encephalocoeles in the
context of drug-resistant temporal lobe epilepsy: A retrospective single-centre
case series.
Epilepsy Res. 2025;218:107643.
PubMed
Abstract available
Natural history of epilepsy in FOXG1 Syndrome.
Epilepsy Res. 2025;218:107644.
PubMed
Abstract available
Developmental Epileptic Encephalopathy in a Pediatric Patient: Insights from a
Novel SULT4A1 Variant and Genetic Challenges.
J Child Neurol. 2025 Aug 29:8830738251369139. doi: 10.1177/08830738251369139.
PubMed
Abstract available
The Role of Caregiver Surveys in Clinical Research of Developmental and Epileptic
Encephalopathies.
Neurology. 2025;105:e214056.
PubMed
WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical
Spectrum and Deciphering the Genotype-Phenotype.
Neurology. 2025;105:e213883.
PubMed
Abstract available
Geographic Heterogeneity in Epilepsy Specialist Distribution.
Neurology. 2025;105:e214035.
PubMed
Abstract available
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function
cause neurodevelopmental disorders of varying severity.
PLoS Genet. 2025;21:e1011828.
PubMed
Abstract available
Effectiveness and safety of midazolam versus lorazepam for pediatric status
epilepticus: A systematic review and meta-analysis.
Seizure. 2025;132:4-12.
PubMed
Abstract available
Modulation of neuroinflammation as a therapeutic strategy for the control of
epilepsy.
Seizure. 2025;131:458-470.
PubMed
Abstract available
ADAM23 haploinsufficiency as a putative oligogenic contributor in an individual
with focal epilepsy.
Seizure. 2025;131:454-457.
PubMed
Abstract available
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