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Unilateral ultra long‐term subcutaneous <span>EEG</span> monitoring in drug‐refractory idiopathic generalized epilepsy Open
Objective Seizure self‐reporting is known to be unreliable, particularly with non‐convulsive seizures. There is increasing interest in long‐term monitoring systems to detect and count seizures, including the use of the minimally‐invasive C…
Painful Todd’s: Post-ictal painful hemiparesis as an identifier of insular epilepsy Open
The insula can generate seizures which mimic frontal, temporal and parietal epilepsies making electroclinical localization difficult. We report the case of a twenty-one-year-old woman who presented with seizure semiology of a left-sided pa…
Adjunctive cenobamate in highly active and ultra‐refractory focal epilepsy: A “real‐world” retrospective study Open
Objective Recent clinical trials have shown that cenobamate substantially improves seizure control in focal‐onset drug‐resistant epilepsy (DRE). However, little is known about cenobamate's performance in highly active ( ≥ 20 seizures/month…
IgG <sub>1</sub> pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality Open
Objectives We aimed to define the clinical and serological characteristics of pan-neurofascin antibody-positive patients. Methods We tested serum from patients with suspected immune-mediated neuropathies for antibodies directed against nod…
IgG1 pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality Open
Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy are umbrella terms for a number of pathologically distinct diseases involving disabling, immune-mediated injury to peripheral nerves. Current treatments involve …
View article: Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E
Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E Open
The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia a…
Reversible Corticobasal Syndrome due to Coeliac Disease Open
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Commentary: The C9orf72 Repeat Expansion Disrupts Nucleocytoplasmic Transport Open
GENERAL COMMENTARY article Front. Neurol., 31 March 2016Sec. Neurodegeneration Volume 7 - 2016 | https://doi.org/10.3389/fneur.2016.00051
A Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B Open
Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of dis…