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PLoS One 2021 22;16(4):e0248517. Epub 2021 Apr 22.

Molecular Neuroscience Research Center (MNRC), Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga, Japan.

It is not fully understood how enzymes are regulated in the tiny reaction field of a cell. Several enzymatic proteins form cytoophidia, a cellular macrostructure to titrate enzymatic activities. Here, we show that the epileptic encephalopathy-associated protein Tbc1d24 forms cytoophidia in neuronal cells both in vitro and in vivo. Read More

Epileptic Disord 2021 Apr 20. Epub 2021 Apr 20.

Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, USA.

New-onset refractory status epilepticus (NORSE) is a rare neurological emergency in which a patient without prior seizure disorder develops seemingly unprovoked status epilepticus refractory to treatment. We report the case of a middle-aged woman who developed NORSE after receiving multiple blood transfusions for subacute blood loss anemia secondary to menorrhagia. Although the mechanism is unclear, we propose that sudden changes in blood viscosity and vasogenic tone resulted in cortical edema and irritation. Read More

Epileptic Disord 2021 Apr 21. Epub 2021 Apr 21.

Department of Neurology and Clinical Neurophysiology, St. Olavs Hospital, Trondheim University Hospital, Norway, Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.

Objective: ADCK3-related disease is a mitochondrial disorder associated with an abnormality of coenzyme Q metabolism. Ataxia and epilepsy are common, and the phenotype overlaps with other mitochondrial encephalopathies, particularly POLG-related disease. CoQ supplementation may be beneficial. Read More

Brain 2021 Apr 21. Epub 2021 Apr 21.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. Read More

Cureus 2021 Mar 16;13(3):e13917. Epub 2021 Mar 16.

Division of Multiple Sclerosis and Neuroimmunology, Department of Neurology, University of Texas Health Science Center at Houston, Houston, USA.

Dysembryoplastic neuroepithelial tumors (DNETs) are benign mixed glioneuronal neoplasms that frequently occur in children and young adults. We present the case of a 17-year-old male who arrived at the hospital following seizure-like activity. A magnetic resonance imaging (MRI) scan showed a 10 x 8 x 10 mm, oval-shaped, non-enhancing, well-defined mass within the right hippocampus. Read More