Search Results - "Howell KB"

Predictive value of PfEMP1 antibody profiles for the course of controlled human malaria infections.

Authors: Höppner, Yannick D. Krumkamp, Ralf Nagaoka, Hikaru et al.

Source: PLoS Pathogens. 6/24/2026, Vol. 22 Issue 6, p1-21. 21p.

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome.

Authors: Yau ML Beck C Fung EL et al.

Source: Cureus [Cureus] 2026 Jul 16; Vol. 18 (7), pp. e112808. Date of Electronic Publication: 2026 Jul 16 (Print Publication: 2026).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE

The psychosocial supports and interventions accessed by family members of patients with developmental and epileptic encephalopathies: A systematic review.

Authors: Smith MC Wang Q Pierce KE et al.

Source: Epilepsy & behavior : E&B [Epilepsy Behav] 2026 Jul 08; Vol. 184, pp. 111185. Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-5069 (Electronic) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

Automated reanalysis of genomic data for rare disease diagnostics at scale.

Authors: Welland MJ Ahlquist KD De Fazio P et al.

Source: Nature medicine [Nat Med] 2026 Jun 24. Date of Electronic Publication: 2026 Jun 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Late-onset epileptic spasms: presentation, aetiology and outcome.

Authors: Dal S Macdonald-Laurs E Mandelstam S et al.

Source: Brain communications [Brain Commun] 2026 Jun 16; Vol. 8 (4), pp. fcag224. Date of Electronic Publication: 2026 Jun 16 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

A De Novo SCN2A Variant in a Patient with Adult‐Onset Dystonia Parkinsonism and Nigrostriatal Denervation.

Authors: Bisquoli, Marco Cavallieri, Francesco Di Rauso, Giulia et al.

Source: Movement Disorders Clinical Practice. Jun2025, Vol. 12 Issue 6, p867-869. 3p.

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Authors: Lim NY Meagher CE Bye A et al.

Source: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2026 Apr; Vol. 23 (3), pp. e00921. Date of Electronic Publication: 2026 May 12.

Publication Type: Consensus Statement; Journal Article; Scoping Review

Journal Info: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

Multigene Panel Testing in Pediatric Epilepsy: Diagnostic Yield and Clinical Implications.

Authors: Kim, Young Ho Cho, Jaeso Lee, Seungbok et al.

Source: Annals of Child Neurology. Jul2026, Vol. 34 Issue 3, p192-200. 9p.

Rapid Whole Genome Sequencing: It Is Feasible! When Can We Implement It?

Authors: Joshi, Charuta¹ (AUTHOR)

Source: Epilepsy Currents. May/Jun2024, Vol. 24 Issue 3, p171-173. 3p.

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia.

Authors: Safarian, Zahra Mehrabi, Shiva Rakhshani Nejad, Arghavan et al.

Source: BMC Medical Genomics. 8/20/2025, Vol. 18 Issue 1, p1-7. 7p.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Authors: Olde Keizer, Richelle A. C. M. Marouane, Abderrahim Kerstjens-Frederikse, Wilhelmina S. et al.

Source: European Journal of Pediatrics. Jun2023, Vol. 182 Issue 6, p2683-2692. 10p. 1 Diagram, 4 Charts, 1 Graph.

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Authors: Coleman M Wang M Snell P et al.

Source: Brain communications [Brain Commun] 2025 Jan 25; Vol. 7 (1), pp. fcaf034. Date of Electronic Publication: 2025 Jan 25 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Authors: Galea B Reid J Gooley S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Nov 22. Date of Electronic Publication: 2025 Nov 22.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Measuring and valuing spillover effects in caregivers and families: A scoping review.

Authors: Dang, Tho T. H. Tabinga, Angeli Beilby, Hannah et al.

Source: PLoS ONE. 3/24/2026, Vol. 21 Issue 3, p1-22. 22p.

Association between maternal usage of volatile organic compounds and West syndrome, the Japan Environment and Children's study.

Authors: Shimomura, Hideki Taniguchi, Naoko Fujino, Tetsuro et al.

Source: Scientific Reports. 12/28/2024, Vol. 14 Issue 1, p1-8. 8p.

A research roadmap for SCN8A-related disorders: addressing knowledge gaps and aligning research priorities across stakeholders.

Authors: Berg, Anne T. Burge, Christopher Conecker, Gabi et al.

Source: Orphanet Journal of Rare Diseases. 8/19/2025, Vol. 20 Issue 1, p1-17. 17p.

Early mortality in STXBP1-related disorders.

Authors: Furia, Francesca Rigby, Charlene Son Scheffer, Ingrid E. et al.

Source: Neurological Sciences. Mar2025, Vol. 46 Issue 3, p1339-1347. 9p.

Subjects: Sudden death, Medical sciences, Lung infections, Early death, Genetic counseling, Cause of death statistics

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

Authors: Macdonald-Laurs E Dzau W Warren AEL et al.

Source: Expert review of neurotherapeutics [Expert Rev Neurother] 2024 Jul; Vol. 24 (7), pp. 661-680. Date of Electronic Publication: 2024 May 30.

Publication Type: Journal Article; Review

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 101129944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-8360 (Electronic) Linking ISSN: 14737175 NLM ISO Abbreviation: Expert Rev Neurother Subsets: MEDLINE

Mathematical theory of sampling analog signals revisited.

Authors: Borys, Andrzej¹, a.borys@we.umg.edu.pl

Source: EURASIP Journal on Advances in Signal Processing; 1/2/2026, Vol. 2026 Issue 1, p1-10, 10p

Mathematical theory of sampling analog signals revisited.

Authors: Borys, Andrzej¹, a.borys@we.umg.edu.pl

Source: EURASIP Journal on Advances in Signal Processing; 12/24/2025, Vol. 2025, p1-10, 10p