Results 131 to 140 of about 2,936,182 (239)

Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report

Frontiers in Genetics
Cardiofaciocutaneous syndrome (CFC) is a rare genetic disorder that presents with cardiac, craniofacial, and cutaneous symptoms, and is often accompanied by neurological abnormalities, including neurodevelopmental disorders and epilepsy.
Rie Tsuburaya-Suzuki, Rie Tsuburaya-Suzuki, Sachiko Ohori, Kohei Hamanaka, Atsushi Fujita, Naomichi Matsumoto, Masako Kinoshita   +6 more
doaj   +1 more source

Siblings With Duchenne Muscular Dystrophy: Exploring Diagnosis Age and Disease Progression in a Genetic Therapy‐Naïve Cohort

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam, Cuixia Tian, Niki Armstrong, Valentina Pilipenko, Lisa J. Martin, Alexander Zygmunt, Irina Rybalsky, Lisa Reebals, Chinmayee B. Nagaraj   +8 more
wiley   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Coexistence of Genetic Generalized Epilepsy and Temporal Lobe Epilepsy

International Journal of Epilepsy, 2023
Kheta Ram Sharma, Naman Agarwal, Smahita Panda, Sarbesh Tiwari   +3 more
openaire   +1 more source

Virtual Twin Approach Using Physiologically Based Pharmacokinetic Modeling to Support Precision Dosing of Valproic Acid in Geriatric Patients

Clinical Pharmacology &Therapeutics, EarlyView.
Personalized dosing is particularly important for drugs with narrow therapeutic indices in geriatric patients, who exhibit substantial physiological variability and limited pharmacokinetic (PK) evidence to guide individualized dose selection. Valproic acid (VPA) is an effective treatment option for bipolar disorder in older adults, yet dosing largely ...
Yoo Jin Jang, Dong‐Gyu Heo, Eunjin Hong   +2 more
wiley   +1 more source

Non‐Invasive Estimation of Systemic Drug Exposure Using Exhaled Breath Metabolomics in Humans: A Translational Proof‐of‐Concept Study

Clinical Pharmacology &Therapeutics, EarlyView.
Accurate assessment of systemic drug exposure in humans remains challenging, as conventional approaches rely on intermittent blood sampling and laboratory‐based assays that are invasive and provide limited temporal resolution. Exhaled breath contains volatile and semi‐volatile compounds arising from drug metabolism and downstream biological processes ...
Kai Fricke, Diego M. Baur, Kapil Dev Singh, Felix Schmidt, Kathrin Müsch, Noriane A. Sievi, Marco Di Donato, Anton Schmick, Jonas Herth, Silvia Ulrich, Pablo Sinues, Marian Galovic, Malcolm Kohler   +12 more
wiley   +1 more source

Replication Data for: Preliminary identification of cognitive phenotypes in temporal lobe epilepsy and genetic generalized epilepsy using robotic assessment

This dataset was collected using Kinarm Robotic Assessment for the purpose of measuring cognitive function of people with epilepsy. This dataset includes participants with Temporal Lobe Epilepsy, and Genetic Generalized Epilepsy.
Aliyianis, Theodore, Winston, Gavin
core   +1 more source

Initiation of Gabapentin with Opioids and Risk of Respiratory Cardiovascular and Opioid‐Related Adverse Events Following Surgery for Breast Cancer

Clinical Pharmacology &Therapeutics, EarlyView.
Pain is a key determinant of quality‐of‐life following breast cancer surgery, the most common cancer operation in the United States. Gabapentinoids are frequently prescribed for pain management, yet their respiratory, cardiovascular, and opioid‐related adverse effects remain unclear.
Jyun‐Heng Lai, Anton L V Avanceña, Juan P Cata, Jamie C. Barner, Sharon H. Giordano, Chanhyun Park, Hui Zhao, Kirk E. Evoy, John K. Lin, Jennifer C. Spencer, Mariana Chavez‐MacGregor, Kelly K. Hunt, Kerollos Nashat Wanis   +12 more
wiley   +1 more source

NMDAR‐antibody encephalitis: Seizure semiology and EEG findings

Epileptic Disorders, EarlyView.
Abstract Background N‐methyl‐D‐aspartate receptor antibody encephalitis (NMDAR‐Ab‐E) is an autoantibody‐mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonomic instability. Objectives To describe acute seizure semiology and electroencephalogram (EEG) findings in patients with a ...
Maria Emilia C. Andraus, Bernard Liem, Sidra Aurangzeb, Mkael Symmonds, Adam E. Handel, Sarosh R. Irani, Arjune Sen   +6 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics & Genomic Medicine
Background Pathogenic variants in SCN1B, the gene encoding the sodium channel β1 subunit, are associated with generalized epilepsy with febrile seizures plus (GEFS+) and related epilepsy disorders.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
doaj   +1 more source