Results 101 to 110 of about 63,586 (240)

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Differential roles of EA‐TRAPed cells in the anterior cingulate cortex across various intervention times in inflammatory pain

Animal Models and Experimental Medicine, EarlyView.
The cumulative effect of EA analgesia is partially attributed to the activation of EA‐TRAPed cells in ACC. Multiple EA sessions and single EA sessions activated different neuronal populations in the ACC. The enhanced analgesic effect of multiple EA sessions may be attributed to an increase in the proportion of GABAergic neurons within the ACC. Abstract
Zi Guo, Ru Ye, Lu Guan, Wei He, Shuang Qiu, Xiaomei Shao, Junfan Fang, Jianqiao Fang, Junying Du   +8 more
wiley   +1 more source

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy

Annals of Neurology, EarlyView.
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen, Jaden Thomas, Xianhui Chen, Jaden Zelidon, Mariam Najeeb, Abigayle Hahn, Ping Zhang, Aaron Sathyanesan, Bin Gu   +8 more
wiley   +1 more source

Timing of Peri‐Ictal MRI Abnormalities in Status Epilepticus – One Size Does Not Fit All

Annals of Neurology, EarlyView.
Objective We aimed to investigate timing of occurrence of peri‐ictal MRI abnormalities – a potential risk biomarker of status epilepticus‐related cerebral injury (t2). Methods This prospective study enrolled adult patients with status epilepticus and acute magnetic resonance imaging (MRI); patients with peri‐ictal MRI abnormalities underwent follow‐up ...
Pilar Bosque Varela, Lukas Machegger, Tanja Prüwasser, Wanda Lauth, Jürgen Steinbacher, Andreas Oellerer, Georg Zimmermann, Johannes Pfaff, Mark McCoy, Bernardo Crespo Pimentel, Markus Leitinger, Eugen Trinka, Giorgi Kuchukhidze   +12 more
wiley   +1 more source

Psilocybin-assisted psychotherapy for treatment-resistant obsessive-compulsive disorder: protocol for an open-label pilot study. [PDF]

BJPsych Open
Ledwos N, Baer J, Husain MI, Blumberger DM, Patterson R, Hollingdrake E, Cheung E, Hawco C, Zrenner C, Zrenner B, Feusner JD, Rossell SL, Castle DJ, Zai G.   +13 more
europepmc   +1 more source

Hydroxycarboxylic Acid Receptor 2 Mediates β‐hydroxybutyrate's Antiseizure Effect in Mice

Annals of Neurology, EarlyView.
A Objective The ketogenic diet, a high‐fat, low‐carbohydrate regimen, is often used to treat drug‐resistant seizures and is being studied for Alzheimer's disease and other neuropsychiatric disorders. However, its mechanism of action remains unclear. β‐hydroxybutyrate, a primary circulating ketone body produced by the ketogenic diet, may mediate its ...
Soudabeh Naderi, John Williamson, Huayu Sun, Suchitra Joshi, Rachel Jane Spera, Savaira Zaib, Supriya Sharma, Chengsan Sun, Andrey Brodovskiy, Ifrah Zawar, Jaideep Kapur   +10 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source