Results 121 to 130 of about 178,919 (265)

Autosomal Dominant Alport Syndrome. [PDF]

J Am Soc Nephrol
Savige J, Huang M.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Baseline hematuria in autosomal dominant polycystic kidney disease. [PDF]

Clin Kidney J
Serra A, Serra JH, Severin M, Russmann S.   +3 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Autosomal Dominant Tubulointerstitial Kidney Disease: My Kingdom for a Biomarker. [PDF]

J Am Soc Nephrol
Bleyer AJ, Kmoch S.
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Evidence for a tubular basement membrane-cilia connection in autosomal dominant polycystic kidney disease pathogenesis. [PDF]

J Clin Invest
Sussman CR, Harris PC.
europepmc   +1 more source

Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis

Epilepsia Open, EarlyView.
Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Julie Uchitel, Olubunmi Fariyike, Samantha Steeman, Sarah Rockwood, Lily H. Kim, John Choi, Astrid C. Hengartner, Aiden H. Fel, Prathyusha Teeyagura, Gerald Grant, Vivek Buch, Kelly B. Mahaney, Laura M. Prolo, Ann Hyslop Segeren, H. Westley Phillips   +14 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

A hidden nonfunctioning kidney in autosomal dominant polycystic kidney disease. [PDF]

Kidney Res Clin Pract
Jung Y, Kim YN, Shin HS, Rim H.
europepmc   +1 more source