Results 211 to 220 of about 936,805 (385)

TUBA1A‐related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures

open access: yesEpileptic Disorders, EarlyView.
Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng   +1 more
wiley   +1 more source

Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening. [PDF]

open access: yesCase Rep Genet
Maya B   +5 more
europepmc   +1 more source

Prenatal Diagnosis of the Mucopolysaccharidoses by a Chemical Method [PDF]

open access: bronze, 1970
Reuben Matalon   +3 more
openalex   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

open access: yesEpilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann   +2 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

open access: yesEpilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz   +2 more
wiley   +1 more source

The accuracy of cell‐free fetal DNA‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

open access: yesBJOG: an International Journal of Obstetrics and Gynaecology, 2017
F. Mackie   +4 more
semanticscholar   +1 more source

Home - About - Disclaimer - Privacy