Search Results - "Howell KB"

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

Authors: Sherrill E Cheerie D Beck CJ et al.

Corporate Authors: Sherrill E Cheerie D Beck CJ et al.

Source: JAMA neurology [JAMA Neurol] 2026 Jun 01; Vol. 83 (6), pp. 598-601.

Publication Type: Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE; In Process

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Authors: Jadhav T Bouffler SE Innes E et al.

Source: Epilepsia open [Epilepsia Open] 2026 Jun; Vol. 11 (3), pp. 949-961. Date of Electronic Publication: 2026 May 04.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE

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

Seizure worsening and sodium channel blockers in HCN1-related epilepsies: A case series.

Authors: Lelli S Bleakley LE Ackermann S et al.

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2026 Jun 25. Date of Electronic Publication: 2026 Jun 25.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol 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

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Authors: Tan M Goad BS Allen M et al.

Source: Epilepsia [Epilepsia] 2026 May; Vol. 67 (5), pp. 2628-2653. Date of Electronic Publication: 2026 Feb 05.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

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

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

Corporate Authors: Nguyen JNH Lachgar-Ruiz M Higginbotham EJ et al.

Source: Neurology [Neurology] 2026 Mar 24; Vol. 106 (6), pp. e214645. Date of Electronic Publication: 2026 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Authors: Castelli R Marini C Porro A et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 20. Date of Electronic Publication: 2026 Mar 20.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Authors: Brünger T Krey I Kim S et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 06. Date of Electronic Publication: 2026 Mar 06.

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

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Authors: Howell KB White SM McTague A et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2025 Feb 27; Vol. 10 (1), pp. 13. Date of Electronic Publication: 2025 Feb 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

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

Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.

Authors: Berecki G Tao E Howell KB et al.

Source: Brain : a journal of neurology [Brain] 2025 Jan 07; Vol. 148 (1), pp. 212-226.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Authors: Viswanathan S Oliver KL Regan BM et al.

Source: Annals of neurology [Ann Neurol] 2024 Nov; Vol. 96 (5), pp. 932-943. Date of Electronic Publication: 2024 Aug 02.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: 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

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

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Authors: Houdayer C Phillips AM Chabbert M et al.

Source: Annals of neurology [Ann Neurol] 2025 Sep; Vol. 98 (3), pp. 573-589. Date of Electronic Publication: 2025 Jun 05.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Development and Adaptive Function in Individuals With SCN2A-Related Disorders.

Authors: Goad BS Rodda J Allen M et al.

Source: Neurology [Neurology] 2025 Aug 12; Vol. 105 (3), pp. e213868. Date of Electronic Publication: 2025 Jul 22.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE