Results 261 to 270 of about 939,161 (398)

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

Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases. [PDF]

Front Neurosci
Zhao T, Chen F, Cao B, Yang L, Yin J, Li Y, Feng F.   +6 more
europepmc   +1 more source

Beclamide in Intractable Epilepsy: a Controlled Trial [PDF]

, 1959
Joseph B. Wilson, J. N. Walton, D. J. Newell   +2 more
openalex   +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

Epilepsy With Psychiatric Comorbidities Unveils Prominent Temporal-Lobe MRI Lesions and Elevated Frontotemporal Interictal Discharges. [PDF]

J Craniofac Surg
Bao Y, Zhang X, Fei X, Yu X, Tang M, Sun C.   +5 more
europepmc   +1 more source

Analysis of Fifty-Two Cases of Epilepsy Observed by the Author [PDF]

E. H. Sieveking
openalex   +1 more source

Effects of Nydrane on Epilepsy in Mental Defectives [PDF]

, 1958
D. S. Sharpe, Gordon N. Dutton, J. R. Mirrey   +2 more
openalex   +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

Resistance is not Futile: Common Genetic Factor Identified for Drug-Resistant Focal Epilepsy. [PDF]

Epilepsy Curr
Glasscock E.
europepmc   +1 more source

On Epilepsy and Epileptiform Seizures, their Causes, Pathology, and Treatment [PDF]

D F C
openalex   +1 more source