Results 101 to 110 of about 2,345,783 (392)

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Jornal de Pediatria
Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos, Paulo Breno Noronha Liberalesso, Tiago dos Santos Bara, Paula Carolina Martins Alves Gomes, Bianca Simone Zeigelboim, Jair Mendes Marques, Mara L. Cordeiro   +6 more
doaj   +1 more source

Prevalence of Epileptic Syndromes in Finland

Pediatric Neurology Briefs, 1998
The prevalence of epilepsy and types of seizures and epileptic syndromes in children in the district of the Tampere University Hospital (population 175,000) and 34 surrounding rural counties was determined by a retrospective review of medical records and EEG recordings, using the latest ILAE International Classifications.
openaire   +4 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Forensic considerations on violent parasomnias during lifespan [PDF]

, 2018
Nocturnal parasomnias are a group of sleep complex manifestation that don't alter the sleep macrostructure, but when persistent during adulthood may be assume violent aspects with relevant forensic implications about the ...
Cerroni F., Chisari M. G., D'Oro L., Di Folco A., Franco S., Gallai B., Geraci D., Lavano F., Lavano S. M., Magliulo R. M., Marotta R., Marsala G., Murabito P., Parisi L., Picciocchi E., Polito A. N., Romano P., Russo D., Salerno M., Salerno M., Sessa F., Sorrentino M., Testa D., Tripi G.   +23 more
core   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Status Epilepticus Manifested as Continuous Epileptic Spasms

Frontiers in Neurology, 2020
Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature.
Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong   +12 more
doaj   +1 more source

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Mechanism of Anticonvulsant Action of ACTH

Pediatric Neurology Briefs, 1998
The effects of adrenocorticotrophin hormone (ACTH) in 23 children with intractable epilepsies and its mechanism of action are reported from the Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, UK.
J Gordon Millichap
doaj   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source