Search Results - "Scheffer IE"

Author Correction: Developmental and epileptic encephalopathies.

Authors: Scheffer IE Zuberi S Mefford HC et al.

Source: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Sep 13; Vol. 10 (1), pp. 66. Date of Electronic Publication: 2024 Sep 13.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101672103 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-676X (Electronic) Linking ISSN: 2056676X NLM ISO Abbreviation: Nat Rev Dis Primers Subsets: MEDLINE; PubMed not MEDLINE

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Authors: Wang T Hoekzema K Vecchio D et al.

Corporate Authors: Wang T Hoekzema K Vecchio D et al.

Source: Nature communications [Nat Commun] 2020 Oct 21; Vol. 11 (1), pp. 5398. Date of Electronic Publication: 2020 Oct 21.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE; PubMed not MEDLINE

Polygenic Risk Scores Shed Light on SUDEP Susceptibility.

Authors: Fine, Anthony L.¹ (AUTHOR)

Source: Epilepsy Currents. Mar/Apr2026, Vol. 26 Issue 2, p122-124. 3p.

Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies.

Authors: Balestrini S Scheffer IE

Source: CNS drugs [CNS Drugs] 2026 Apr; Vol. 40 (4), pp. 535-548. Date of Electronic Publication: 2026 Feb 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 9431220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-1934 (Electronic) Linking ISSN: 11727047 NLM ISO Abbreviation: CNS Drugs Subsets: MEDLINE

Lacosamide is Associated with a Higher Treatment Persistence at 12 Months than Brivaracetam and Perampanel Despite Similar Efficacy.

Authors: Roberti, Roberta Politi, Cristina Anzellotti, Francesca et al.

Source: Neurology & Therapy. Feb2026, Vol. 15 Issue 1, p213-235. 23p.

From All to One: Can a Large Cohort of Individuals with SCN1A-Related Epilepsy Offer Predictions for Other Individuals With SCN1A Variants?

Authors: Gerard, Elizabeth E.¹ (AUTHOR)

Source: Epilepsy Currents. May/Jun2025, Vol. 25 Issue 3, p158-160. 3p.

Mosaic Matters: A Transcriptomic Window into FCDII Epileptogenesis.

Authors: Nguyen, Lena H.¹ (AUTHOR)

Source: Epilepsy Currents. Jul/Aug2026, Vol. 26 Issue 4, p349-351. 3p.

Childhood motor speech disorders: who to prioritise for genetic testing.

Authors: Van Niel H Lauretta M Baker E et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May; Vol. 34 (5), pp. 639-648. Date of Electronic Publication: 2026 Jan 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Quality of Life in Children with Epilepsy: A Bibliometric Analysis.

Authors: Kılıç, Kızbes Meral Aydın, Hilal

Source: Archives of Epilepsy. 2025, Vol. 31 Issue 3, p94-104. 11p.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Authors: Bennett MF Corbett MA Kroes T et al.

Source: Brain communications [Brain Commun] 2025 Nov 03; Vol. 7 (6), pp. fcaf433. Date of Electronic Publication: 2025 Nov 03 (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

Blocking SUDEP With a Beta Blocker: Atenolol Reduces Seizure-Related Mortality.

Authors: Buchanan, Gordon F.¹ (AUTHOR)

Source: Epilepsy Currents. Mar/Apr2026, Vol. 26 Issue 2, p152-154. 3p.

Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Authors: Vlaskamp DRM Scheffer IE

Source: Neurology [Neurology] 2020 Feb 25; Vol. 94 (8), pp. 370.

Publication Type: Journal Article; Comment

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

Canalization of neural dynamics by δ-protocadherins in the developing zebrafish optic tectum.

Authors: Biswas, Sayantanee Emond, Michelle R. Philip, Grace S. et al.

Source: PLoS Genetics. 6/1/2026, Vol. 22 Issue 6, p1-20. 20p.

Practical Recommendations for Cardiology Follow-Up in Patients Treated with Fenfluramine Based on Expert Opinion and Clinical Experience.

Authors: Gil-Nagel, Antonio de la Isla, Leopoldo Pérez Pascual, Elena Sanz et al.

Source: Neurology & Therapy. Jun2026, Vol. 15 Issue 3, p965-973. 9p.

Diagnostic outcome of video EEG monitoring in a referral epilepsy unit.

Authors: Agamy, Aya Salah Kishk, Nirmeen Adel Nawito, Amani Mahmoud et al.

Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 5/18/2026, Vol. 62 Issue 1, p1-5. 5p.

Eating Epilepsy: Clinico-Electro-Imaging Profiles and Treatment Outcomes in Patients from Northeast India.

Authors: Kasana, Ruby Barthakur, Mausumi Velayudhan, Krishnapriya V et al.

Source: Annals of Indian Academy of Neurology. May/Jun2026, Vol. 29 Issue 3, p426-431. 6p.

Early mortality in STXBP1-related disorders.

Authors: Furia F Rigby CS Scheffer IE et al.

Corporate Authors: Furia F Rigby CS Scheffer IE et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Mar; Vol. 46 (3), pp. 1339-1347. Date of Electronic Publication: 2024 Oct 11.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

Associations between epileptic seizures in pregnancy and adverse pregnancy outcomes: A systematic review and meta-analysis.

Authors: Olalere, Oladipupo Tariq, Saba Ajijola, Olanike et al.

Source: PLoS Medicine. 10/31/2025, Vol. 22 Issue 10, p1-14. 14p.

Prevalence and Risk Factors of Psychogenic Nonepileptic Seizure among Patients Evaluated for Seizures.

Authors: Alshurem, Mohammed BuSaad, Mohammed A. Alhamad, Zainab et al.

Source: Annals of African Medicine. Oct-Dec2025, Vol. 24 Issue 4, p750-754. 5p.

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