Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]
Medicine (Baltimore)Xu T, Yue F, Ge Y, Liu R.
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Cytogenomic Abnormalities in Children With Acute Lymphoblastic Leukemia From Western Mexico: A Single-Center Fluorescence In Situ Hybridization-Based Study. [PDF]
EJHaemArreola RMG +8 more
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 +3 more
wiley +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 +2 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]
Front GenetChen JY, Cai MJ, Chen XL, Ge YS.
europepmc +1 more source
Epilepsia Open, EarlyView.Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris +4 more
wiley +1 more source
Genetic landscape of patients with atypical absence status epilepticus: A systematic review
Epilepsia Open, EarlyView.Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu +2 more
wiley +1 more source
The clinical relevance of sole loss of chromosome Y in myeloid neoplasms. [PDF]
Blood Cancer JHuber S +5 more
europepmc +1 more source