Results 101 to 110 of about 49,880 (266)

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

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

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Management of Infantile Epileptic Spasms Syndrome: A survey of US pediatric hospitals

Epilepsia Open, EarlyView.
Abstract Objective To evaluate the management practices of Infantile Epileptic Spasms Syndrome (IESS) across tertiary pediatric hospitals in the United States using a survey‐based approach. Methods A 21‐question survey focused on management setting, work‐up, follow‐up and treatment was created and sent to 45 member institutions of the Pediatric ...
Akshat Katyayan, Christina Briscoe, Sonam Bhalla, Sonal Bhatia, Gozde Erdemir, Chellamani Harini, Senyene E. Hunter, John R. Mytinger, Duyu Nie, Archana Pasupuleti, Shital H. Patel, Debopam Samanta, Amanda Sandoval Karamian, Avantika Singh, Deepa Sirsi, Danielle S. Takacs, Shaun A. Hussain   +16 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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

AMINA WADUD, EL CORÁN Y LA MUJER: RE-LEYENDO EL TEXTO SAGRADO DESDE UNA PERSPECTIVA FEMENINA (RESEÑA)

Revista Cultura & Religión, 2014
Amina Wadud es una reconocida feminista musulmana, doctora en estudios Islámicos y profesora asociada en la Virginia Commonwealth University en Estados Unidos.
Vanessa Rivera de la Fuente
doaj  

From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the DS'coverED study

Epilepsia Open, EarlyView.
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou, Maria Ballarà Petitbò, Sergio Aguilera Albesa, Simona Borroni, Perrine Hugon, Ratna Kumar, Tullio Messana, Pierre Meyer, Frédéric Villéga, Kerstin A. Klotz   +9 more
wiley   +1 more source

Pattern of Progression of Oral Potentially Malignant Disorders From Real‐World Data: A 24‐Year Study

Head &Neck, EarlyView.
ABSTRACT Background Oral potentially malignant disorder (OPMD) prognostication is limited by uncertainty of which lesions will progress and the aggressiveness of lesion progression. We defined patterns and kinetics of progression in a large cohort of OPMD subjected to serial clinical and histologic examinations. Methods This 24‐year study evaluated the
Subin Surendran, Sumsum P. Sunny, Preethi M. Chathoth, William J. Magner, S. Lynn Sigurdson, Mihai Merzianu, Norbert Sule, Anurag K. Singh, Kimberly E. Wooten, Ryan P. McSpadden, Vishal Gupta, Amritha Suresh, Ashok Z. Samuel, Rohit Bhargava, Praveen N. Birur, Wesley L. Hicks Jr, Moni Abraham Kuriakose   +16 more
wiley   +1 more source

A Multi-Center Study: Developing a Nomogram for Predicting Genetic Results of Trio-Based Whole-Exome Sequencing (Trio-WES) in Diagnosing Children with Syndromic Neurodevelopmental Disorders (s-NDDs). [PDF]

Int J Gen Med
Wu R, Qiu R, Tang D, Meng Z, Li X, Li D, Tang W.   +6 more
europepmc   +1 more source