Results 121 to 130 of about 2,345,783 (392)

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Clinical features of epileptic syndrome and alteration of NMDAand of AMPA-receptors of glutamate in the pathogenesis of the disease in the patients with supratentorial meningiomas of the brain

Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2018
Forty three patients with supratentorial meningiomas were under examination. A significant increase of the level of autoantibodies to the GluR1 -subunit of the AMPA-receptors of glutamate was seen in the patients with meningiomas with epileptic syndrome.
V. N. Ochkolyas, A. A. Skoromets, A. F. Gurchin   +2 more
doaj   +1 more source

Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]

, 2017
Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
core   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

Neuronal oxidative injury in the development of the epileptic disease : a potential target for novel therapeutic approaches [PDF]

, 2011
Epileptic diseases affect about 50 million people in the world and approximately 30% of patients diagnosed with epilepsy are unresponsive to current medications.
Maio, Roberto di
core  

Offering patients choices: A pilot study of interactions in the seizure clinic [PDF]

, 2011
Using conversation analysis (CA), we studied conversations between one United Kingdom-based epilepsy specialist and 13 patients with seizures in whom there was uncertainty about the diagnosis and for whom different treatment and investigational options ...
Antaki, Braddock, Britten, Brown, Buchanan, Campion, Carton, Cohen, Crawford, Drew, Drew, Drew, Elwyn, England, Ettinger, Farias, Ford, Guadagnoli, Hall-Patch, Heritage, Heritage, Howlett, Kanaan, Karnieli-Miller, Kitzinger, Lewin, Makoul, Markus Reuber, McCorry, McKenzie, Merran Toerien, Plug, Pugh, Rebecca Shaw, Reuber, Roderick Duncan, Stevenson, Stivers, Stivers, Waitzkin   +39 more
core   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett, Vera M. Kalscheuer, Rebeca Ridings Figueroa, Elizabeth E. Palmer, Angela T. Morgan   +4 more
wiley   +1 more source

Incidence of Epileptic Syndromes in Rochester, Minnesota: 1980–1984 [PDF]

, 1999
Michele Zarrelli, Ettore Beghi, Walter A. Rocca, W. Allen Hauser   +3 more
openalex   +1 more source

West Syndrome and its Related Epileptic Syndromes [PDF]

Epilepsia, 1998
Summary: The purpose of this project was to study the relationship between West syndrome (WS) and its related epileptic syndromes, and reconsider the nosological limits of WS. The electroclinical features of 45 patients who experienced spasms in series were investigated, as well as some features not common in patients with WS.
openaire   +3 more sources