Results 111 to 120 of about 79,193 (253)

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Optimized fetal head circumference estimation in 2D ultrasound using EfficientNet-B7 and Adam optimizer. [PDF]

BMC Pediatr
Vimala N, Prasanna KSL, Bikku T, Pujari JJ, Kota SK, Shanmugasundaram P, Thota S.   +6 more
europepmc   +1 more source

Birth Head Circumference [PDF]

, 2020
openaire   +1 more source

Development and preclinical evaluation of a hybrid stereoelectroencephalographic–laser depth electrode for magnetic resonance imaging‐guided interstitial thermal therapy in drug‐resistant epilepsy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to design and validate a hybrid depth electrode combining stereoelectroencephalographic (sEEG) recording and magnetic resonance‐guided laser interstitial thermal therapy (MRgLITT) under real‐time magnetic resonance thermometry, to streamline the transition from invasive localization to focal ablation in ...
Bertrand Mathon, Karima Mokhtari, Damien Galanaud, Alexandre Carpentier   +3 more
wiley   +1 more source

The influence of paternal preconception health on birth defects and head circumference: A scoping review. [PDF]

PLOS Glob Public Health
Dennis CL, McQueen K, Dol J, Dennis-Grantham A, Singla DR, Nkurunziza A, Abbass-Dick J, Birken CS, Shorey S.   +8 more
europepmc   +1 more source

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life. [PDF]

Neurology
Mandal AS, Shinohara RT, Jung B, Gardner M, Akouri HE, Yerys BE, Low KJ, Cole TJ, Guthrie W, Janke KM, Herrington JD, Hocking MC, Ball G, Payne JM, North KN, Muhlert N, Garg S, Seidlitz J, Fisher MJ, Alexander-Bloch AF.   +19 more
europepmc   +1 more source

A Case of Ultrasound Suspected Microcephaly With a Normal Head Circumference at Birth. [PDF]

Cureus, 2023
Tanabe S, Ichida K, Morishima S.
europepmc   +1 more source

Fetal Head Circumference [PDF]

, 2020
openaire   +1 more source

Unsteady Flow Behavior and Radial Force Analysis of a Side Channel Pump Under Different Blade Tip Cutting Angles Using Computational Fluid Dynamics

Energy Science &Engineering, EarlyView.
The Radial Force (RF) distribution under different cutting angles is presented in Figure 1. Generally, the distribution of RF displays divergence across different flow conditions. The pattern of force distribution reveals a total of 24 peaks, which corresponds to the number of blades of the impeller of the SCP.
Kofi Asamoah Adu‐Poku, Desmond Appiah, Fan Zhang, Chen Ke   +3 more
wiley   +1 more source