Results 201 to 210 of about 693,260 (339)

The Economic and societal burden associated with drug-resistant epilepsy in the Netherlands: an AIM@EPILEPSY burden-of-disease study protocol. [PDF]

BMJ Open
Elabbasy D, Evers S, Majoie MHJM, Schijns OEMG, M'Rabet L, van Kranen-Mastenbroek VHJM, Eekers DBP, Houben R, Hendriks M, Colon A, van Mastrigt GAPG.   +10 more
europepmc   +1 more source

A REPORT OF A CASE OF MYOCLONUS EPILEPSY [PDF]

, 1904
Irwin H. Neff
openalex   +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

Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis. [PDF]

Syst Rev
Chang YM, Huang YT, Lai PC.
europepmc   +1 more source

THE MORBID ANATOMY OF EPILEPSY. [PDF]

, 1893
E.T. Wynne
openalex   +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

Causal Relationship Between Epilepsy, Status Epilepticus and Sleep-Related Traits: A Bidirectional Mendelian Randomization Study. [PDF]

Brain Sci
Shin YW, Hong SB.
europepmc   +1 more source

INTERESTING CASE OF CATALEPSY FOLLOWED BY EPILEPSY IN A MILITARY OFFICER. [PDF]

, 1875
Chapple
openalex   +1 more source

Acanthocytosis Contributes to the Diagnosis of the McLeod Syndrome

American Journal of Hematology, EarlyView.
D. Mark Layton, Barbara J. Bain
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source