Phenotypes are like water – Rare Disease Day 2023 | Beyond the Ion Channel epilepsygenetics.net/2023/02/28/phe… #RareDiseaseDay2023

Key point: "Antibodies to LGI1, NMDAR, and GAD65 are the most common antibodies found in patients with autoimmune encephalitis and autoimmune-associated seizure disorders." Epileptic Disorders doi.org/10.1002/epd2.2…

This case highlights an approach to IgM paraproteinemic neuropathies. Attention to neuropathy phenotype, evaluation of systemic features, and investigation of underlying hematologic disorders are essential steps to reach the correct diagnosis. bit.ly/3TrBYQ0

This case highlights an approach to lumbosacral plexopathies/radiculoplexus neuropathies. We also discuss the presentation and management of a rare CIDP variant. bit.ly/47A8lBU Neurology Journal

Centromedian thalamic deep brain stimulation for idiopathic generalized epilepsy: Connectivity and target optimization doi.org/10.1111/epi.18… #epilepsy #connectivityanalysis #electricalbrainstimulation #neuromodulation #volumetricmapping International League Against Epilepsy Epilepsia Wiley Neuro

Key points: Genetic developmental and epileptic encephalopathies (DEEs) are characterized by various seizure types, genetic heterogeneity, and cognitive impairment with variable clinical trajectories. doi.org/10.1111/epi.18… #epilepsy International League Against Epilepsy @epilepsiajourn Wiley Neuro

Happy to share this complex case of leukoencephalopathy with calcifications and cysts (LCC) that I saw with the amazing Jenn Orthmann Murphy. It is important to recognize this radiographic pattern to guide genetic testing and appropriate management. bit.ly/3BkH9ek

Key point: "CACNA1E variant p.(Gly352Arg) is associated with early-onset DEE, dystonia/dyskinesia and contractures." Epileptic Disorders: doi.org/10.1002/epd2.2…

📚Do not miss to upload our recent scientific publication on: "The expanding field of genetic developmental and epileptic encephalopathies" - authors.elsevier.com/a/1jxUH8Mut2Qn… EU One Health HaDEA #ScientificPublications

Epilepsy & Behavior for Early Careers A Special Supplement with a noble purpose and great reviews for young epileptologists In this article, we demystify the ketogenic diet therapy with a simple and concise article. yesILAE #ketogenicdiet authors.elsevier.com/a/1j-vM5Qt1H3n…

Key point: A phase 3, open-label extension trial of adjunctive LCM was carried out in patients (aged ≥4 years) with IGE. doi.org/10.1111/epi.18… #epilepsy #antiseizuremedication #idiopathic #longtermretention #phase3trial #lacosamide International League Against Epilepsy @epilepsiajourn Wiley Neuro

AIFM1 variants should be considered in patients with hereditary cerebellar ataxia and auditory neuropathy. We highlight a novel AIFM1 variant and its phenotypic intrafamilial variability. Thanks Dr.Selcen and #mayoclinic colleagues involved in these cases!neurology.org/doi/10.1212/NX…

Check out the new "publications" tab👇 on eegtalk.com! We hope this is will be helpful for trainees and #EEG & #epilepsy lovers across the 🌍. 🙂🧠⚡️💡 eegtalk.com/publications

Yesterday, we enjoyed a “Lasagna from Scratch” cooking class led by the power couple, Mayo Clinic Neurology Fellowships Felipe Jones (Neuromuscular) and Alejandra Vasquez, MD (Epilepsy). It was an incredible experience, filled with fun moments, and the final dish was absolutely spectacular! 😍

Keep an “open diagnostic mind”! Herein, learn to identify red flags of potentially treatable neurotransmitter disorders when evaluating early developmental delay, illustrated by cases of two girls with a complex blended phenotype. Ainara Salazar Villacorta loom.ly/SVYFvus

[Highlight of the Month] Salehizadeh S, Hakami S, Shrestha R, Fotedar N. Repetitive muscle silent periods in acute post-anoxic brain injury: A novel phenotype of negative myoclonus. Clin Neurophysiol 2024;169:4-10. doi.org/10.1016/j.clin…

Congratulations to Dr. Jones on his recent publication in Neurology, “Ideomotor Apraxia and “Milky Way” sign in Progressive Multifocal Leukoencephalopathy.” neurology.org/doi/10.1212/WN… #ScholarlySunday #NeurologyFellowships #MayoNeurology

Happy to share our most recent publication with Dr. Fine Mayo Clinic Mayo Clinic Neurology Fellowships on Management of DEEs. thieme-connect.de/media/sin/EFir…

Check out our collaborative work and experience with Radiofrequency Thermocoagulation for focal epilepsy. SEEG-guided RFTC is safe and a beneficial diagnostic approach prior to further neurosurgical interventions in patients with DRE.#MayoClinic onlinelibrary.wiley.com/doi/10.1002/ep…

🚨 New Research Alert: Dravet Syndrome & Neurodegeneration 🚨 A groundbreaking study suggests that Dravet syndrome (DS) in adults may have neurodegenerative features, with declining adaptive skills, gait issues, and parkinsonian symptoms linked to age and long-term sodium