Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
Extremes of Fetal Fraction on Noninvasive Prenatal Screening and Placental Histopathology: Is There an Association? [PDF]
Stanley ZD +8 more
europepmc +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Selection and evaluation of DNase I hypersensitive sites for prenatal screening of trisomy 21 in the fetus. [PDF]
Mazur AM +3 more
europepmc +1 more source
Ketogenic diet for infantile epileptic spasms
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury +3 more
wiley +1 more source
Prenatal Screening Via cfDNA - Paired-End Sequencing Utilizing Fragment Size Information Reduces the Screen Positive Rate for X Chromosome Aneuploidies. [PDF]
Hancock S +4 more
europepmc +1 more source
Abstract Regulatory restrictions and evolving clinical guidelines have aimed to reduce sodium valproate use in people of reproductive potential over the past decade due to its teratogenic risk. While clinical evidence and policy responses are well established, stakeholder perspectives remain less explored.
Katherine Wang +3 more
wiley +1 more source
Dedicated First-Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study. [PDF]
Bronsgeest K +17 more
europepmc +1 more source
Diagnostic Challenges of Hemoglobin (Hb) Hekinan with deletional α<sup>0</sup>-thalassemia and β<sup>0</sup>-thalassemia During Prenatal Screening for Fetal Hb E/β-Thalassemia Risk. [PDF]
Chumnumsiriwath P +7 more
europepmc +1 more source

