Results 291 to 300 of about 2,601,816 (350)

Fenfluramine in Rett syndrome: A multidimensional clinical study

Epilepsia Open, EarlyView.
Abstract Objective Rett syndrome (RTT) is a severe neurodevelopmental disorder frequently associated with drug‐resistant epilepsy, autonomic dysfunction, respiratory abnormalities, sleep disturbances, and behavioral impairment. Fenfluramine has shown efficacy in developmental and epileptic encephalopathies and may provide broader therapeutic benefits ...
Elena Gonzalez‐Alguacil, Nuria Lamagrande Casanova, Manuel Luján Bonete, David Mansilla Lozano, Juan José García Peñas, María Ballará Petitbó, Rocío Trincado Lamuño, Verónica Cantarín‐Extremera, Raquel Díaz Conejo, César Rodríguez Sánchez, Adrián García Ron, Víctor Soto Insuga   +11 more
wiley   +1 more source

Sudden unexpected death in epilepsy: An Italian expert consensus statement on risk, mechanisms, prevention, and therapeutic strategies

Epilepsia Open, EarlyView.
Abstract Objective Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature mortality in people with epilepsy, particularly in those with tonic–clonic seizures (TCSs), developmental and epileptic encephalopathies (DEEs), and drug‐resistant epilepsy.
Vincenzo Belcastro, Fedele Dono, Giovanni Falcicchio, Lorenzo Gigli, Angela La Neve, Sara Matricardi, Barbara Mostacci, Angelo Pascarella, Leandro Pecchia, Emilio Russo, Pasquale Striano   +10 more
wiley   +1 more source

HPV vaccination coverage and barriers for people with disability: A scoping review. [PDF]

Hum Vaccin Immunother
Walmsley S, Vajdic CM, Bishop GM, Long R, Aitken Z.   +4 more
europepmc   +1 more source

Maternal Sadness in the Context of Developmental Disabilities: A Cross-Sectional Study of Autism, Down Syndrome, and Intellectual Disability

Cau Kim Jiu, Sri Ariyanti, Tri Wahyuni, Usman Usman, Solikhah Solikhah   +4 more
openalex   +1 more source

Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care

Epilepsia Open, EarlyView.
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley, Peter Widdess‐Walsh, Christine Linehan, Danielle M. Andrade, Norman Delanty, Patrick B. Moloney   +5 more
wiley   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Exploring early perceptual processing of faces displaying Down syndrome features from a masked priming paradigm. [PDF]

Front Psychol
Hernández-Espeso N, Moret-Tatay C, Bustos-Hernando L, Diamanti R.   +3 more
europepmc   +1 more source

Combining blood biomarkers and the German version of the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID‐G) for diagnosing cognitive decline in Down syndrome

Olivia Wagemann, Charlotte Götz, Elisabeth Wlasich, Katja Sandkühler, Catharina Prix, Anna Stockbauer, Lena Marth, Alexander Jäck, Steffen Halbgebauer, Hayrettin Tumani, Günter U. Höglinger, Johannes Levin, Georg Nübling   +12 more
openalex   +1 more source

The translational asymmetry of corpus callosotomy: Two literatures that answered different questions

Epilepsia Open, EarlyView.
Abstract Corpus callosotomy is an established palliative operation for drug‐resistant epilepsy dominated by drop attacks, and it is performed in three extents: anterior, usually of the anterior two‐thirds; total, in one or two stages; and selective posterior, which preserves the genu and rostral body.
Vitória Bernal Cavalcanti, Paulo Henrique Pires de Aguiar   +1 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source