A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker by Roberto L. P. Mazzaschi, Juliet Taylor, Stephen P. Robertson, Donald R. Love, Alice M. George

“…A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. …”
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Coxiella Endocarditis as the Cause of Recurrent Fever and Brain Abscess in a Patient with Complex Congenital Heart Disease: A Case Report and Literature Review by Ioannis A. Ziogas, Alexandros P. Evangeliou, Olga Tsachouridou, Alexandra Arvanitaki, Afroditi Tsona, Vassilios Kamperidis, Marianthi Papagianni, Theofilos Panagiotidis, Ilias A. Tourtounis, George Giannakoulas, Symeon Metallidis

“…We present the case of an 18-year-old male with a history of complex congenital heart disease and 3-year intermittent episodes of fever of unknown origin, who was referred to our hospital for upper and lower extremity focal seizures. Laboratory blood tests were normal, blood cultures were negative, and brain imaging revealed an abscess. …”
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The WAVE complex in developmental and adulthood brain disorders by Hyung-Goo Kim, Clara Berdasco, Angus C. Nairn, Yong Kim

“…De novo mutations in WAVE genes and other components of the WAVE complex have been identified in patients with developmental disorders such as intellectual disability, epileptic seizures, schizophrenia, and/or autism spectrum disorder. …”
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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene by Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh

“…The clinical presentation included prolonged jaundice, progressive skin hyperpigmentation, seizures, fever, and a large umbilical hernia. Two variants in the MC2R gene, c.560delT and c.676G > C, were detected and classified as pathogenic and likely pathogenic, respectively. …”
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Systemic Lupus Erythematosus with Concurrent Thrombotic Thrombocytopenic Purpura: A Case Report of Diagnostic Challenges and Management Approaches by Sonu Rahul Tej Gaddam, Manideep Katta, Sumana Simarla, Pruthvi Raj Kukunoor, Manichandana Katta

“…Continued neurological deterioration led to subdural haemorrhage with generalised tonic-clonic seizures and refractory severe thrombocytopenia, treatment with intravenous methylprednisolone, suggesting an underlying haematological condition. …”
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Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies by Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova

“…Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. …”
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Contributing factors for participation and independence in children and youths with disabilities by Anna Karin Axelsson, Magnus Ivarsson, Henrik Danielsson, Anna Ullenhag

“…Other influential child factors included the presence of seizures, speech abilities, age, pain levels, and motor functions. …”
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Varicella zoster virus triggering Henoch–Schonlein Purpura in an adult: A case report by Kevin Chung, Natasha Priya Dyal, Sandhya Nagarakanti

“…This case reports highlights a 37-year-old woman who was transferred to Mayo Clinic Arizona for care after development of seizures, altered mental status, and a diffuse petechial rash, along with vesicular lesions near the groin. …”
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From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 by Georgios Koutsis, Marios Panas, George P. Paraskevas, Anastasia M. Bougea, Athina Kladi, Georgia Karadima, Elisabeth Kapaki

“…Among 3 affected members, one presented with HD phenocopy; one with progressive ataxia, dementia, chorea, dystonia, and seizures, and one with mild slowly progressive ataxia with minor cognitive and affective symptoms. …”
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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

“…Mutations in ASH1L have been associated with a range of phenotypes, including intellectual disability (ID), autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), seizures, as well as differences in skeletal, muscular, and sleep functions. …”
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8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy by Alejandra Rincon, Paola Paez-Rojas, Fernando Suárez-Obando

“…The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting relevant findings like hearing loss and severe epilepsy and the possible relations between the phenotype and the genes involved in the microdeletion. …”
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Extensive Inactive Neurocysticercosis: A Case Report in Mbeya, Southern Highlands of Tanzania by Makasi CE, Ngowi BJ, Stelzle D, Kilale AM, Mahande MJ, Welte TM, Winkler AS, Mmbaga BT

“…Clinical presentation of NCC ranges from asymptomatic to manifestations, including epileptic seizures, severe progressive headache, and focal neurological deficits. …”
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Breast cancer metastases in central nervous system. Case report and review of literature by I. Radzevičiūtė, R. Pačinskaitė, R. Gleiznienė

“…Symptoms of metastases of breast cancer in the brain, depending on location, can include nausea, headache, hemiparesis, blurred vision, seizures, slurred speech, impaired thinking, dizziness. …”
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CHEMOTYPE VERBOCCIDENTAFURAN IN Baccharis punctulata (Asteraceae): FURANIC SESQUITERPENES CORRELATION AND MOLECULAR DOCKING INTO THE BENZODIAZEPINE RECEPTOR by Jociani Ascari, Murilo S. de Oliveira, André L. Rüdiger, Elaine Elisabetsky, Domingos S. Nunes, Jorge Iulek, Dilamara R. Scharf, Gustavo Heiden

“…(Apiaceae), is active to control seizures induced by pentylenetetrazole, what suggests a possible binding to the benzodiazepine-site of the GABAA (gamma-aminobutyric acid type A) receptor. …”
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Intraventricular Hemorrhage after Epidural Blood Patching: An Unusual Complication by Mohammad Sorour, Khaled M. Krisht, William T. Couldwell

“…This was seen on CT scan of the head for workup of pressure-like headaches, nausea, vomiting, and absence seizures. Conservative management was followed in both instances. …”
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Posterior Reversible Encephalopathy Syndrome (PRES) in a Patient with Opioid Use Disorder by Terence Tumenta, Samuel Adeyemo, Oluwatoyin Oladeji, Oluwole Jegede, Bordes Laurent, Tolu Olupona

“…It can present with acutely altered mentation, somnolence or occasionally stupor, vision impairment, seizures, and sudden or chronic headaches that are not focal. …”
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Venlafaxine-induced serotonin syndrome causing bilateral cerebral strokes: a case report by Nils Mein, Khadija Mammadli, Felix Luessi, Timo Uphaus, Timo Uphaus

“…Furthermore, we aim to increase awareness of hypoglycemia and epileptic seizures as complications of venlafaxine intoxication. …”
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Curbing the trade in pangolin scales in China by revealing the characteristics of the illegal trade network by Fei Xi, Xiaoran Chao, Shibao Wu, Fuhua Zhang

“…The six main cities involved in the illegal trade in China were Bozhou, Chongzuo, Dehong, Beijing, Hong Kong, and Kunming. Seizures of illegally traded scales have decreased significantly due to strengthened law enforcement and increased public awareness of their protected status. …”
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Intracranial Gliofibroma: A Case Report and Review of the Literature by Patricia Gargano, Graciela Zuccaro, Fabiana Lubieniecki

“…A 10-year-old girl with seizures was referred for study. Neuroimaging showed a hemispheric hyperdense tumor with little peritumoral edema and no mass effect. …”
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Efficacy of Rituximab in a Systemic Lupus Erythematosus Patient Presenting with Diffuse Alveolar Hemorrhage by Gabriela Montes-Rivera, Grissel Ríos, Luis M. Vilá

“…Herein, we report a 25-year-old Hispanic man who presented with acute-onset SLE manifested by polyarthralgia, nephritis, seizures, pancytopenia, severe hypocomplementemia, and elevated anti-dsDNA antibodies. …”
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