Results 181 to 190 of about 229,156 (260)

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

Multifocal small bowel gastrointestinal stromal tumor causing perforation peritonitis: A rare cause of acute abdomen. [PDF]

Radiol Case Rep
Shringi B, Rathi V, Meena P, Singh K.
europepmc   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Endometrial pathogenic <i>Escherichia coli</i> in canine pyometra: severity of tissue damage, host defense evasion, and antimicrobial resistance profile. [PDF]

Front Vet Sci
Rota A, Corrò M, Maniscalco L, Spagnolo E, Tonon E, Genovese S, Bertero A.   +6 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, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants. [PDF]

J Neurooncol
Kohanbash G, Ryall S, Gary SE, Hoffman LM, Siddaway R, Bendel AE, Gripp KW, Walter AW, Hansford JR, Smith AA, Wang H, Skaugen JM, Tabori U, Hawkins CE, Broniscer A.   +14 more
europepmc   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Uncommon presentation of infantile hepatic hemangioendothilioma

Indian Journal of Radiology and Imaging, 2006
C J Rao, S L Reddy
doaj   +1 more source

Tachycardia-bradycardia syndrome. [PDF]

Eur Heart J Case Rep
Singh RK.
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