Results 151 to 160 of about 15,690 (256)

Excitatory neurons and astrocytes‐specific dysregulation and aberrant interactions are vulnerable to FCDI as suggested by single‐cell spatial transcriptomics

Clinical and Translational Medicine, Volume 16, Issue 5, May 2026.
• Excitatory neurons and astrocytes show marked alterations in the single‐cell spatial transcriptomic atlas of epileptogenic cortex from patients with focal cortical dysplasia type I (FCDI). • The CBLN2high excitatory neuron subtype may be associated with neuronal hyperexcitability and cortical development in FCDI.
Yaqian Zhang, Qihang Zou, Yingying Liu, Yinchao Li, Yubao Fang, Tiancai Huang, Jiabin Yu, Lisen Sui, Dezhi Cao, Liemin Zhou   +9 more
wiley   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Whole genomic approach in mutation discovery of infantile spasms patients. [PDF]

Front Neurol, 2022
Lee S, Jang S, Kim JI, Chae JH, Kim KJ, Lim BC.   +5 more
europepmc   +1 more source

Models for infantile spasms: an arduous journey to the Holy Grail... [PDF]

, 2007
Baram, Tallie Z
core   +2 more sources

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Steroids in Infantile Spasms Syndrome: Another Trial, Another Drug, Another Dose, What's Next? [PDF]

Ann Indian Acad Neurol, 2022
Whitney R, Jain P.
europepmc   +1 more source

Infantile Spasms in Tuberous Sclerosis Complex: Lesion or Network? [PDF]

Epilepsy Curr, 2021
Joshi C, Bear JJ.
europepmc   +1 more source

The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms. [PDF]

Iran J Child Neurol, 2022
Hanifiha M, Shervin Badv R, Mahmoudi M, Tavasoli AR.   +3 more
europepmc   +1 more source

Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms. [PDF]

Neurology, 2022
Yuskaitis CJ, Mytinger JR, Baumer FM, Zhang B, Liu S, Samanta D, Hussain SA, Yozawitz EG, Keator CG, Joshi C, Singh RK, Bhatia S, Bhalla S, Shellhaas R, Harini C, Pediatric Epilepsy Research Consortium.   +15 more
europepmc   +1 more source