Search Results - "Inuzuka LM"

A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.

Authors: Marin R Rulo G Andrade DM et al.

Source: Seizure [Seizure] 2025 Sep; Vol. 131, pp. 16-21. Date of Electronic Publication: 2025 May 31.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

KCNMA1‐Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.

Authors: Roze, Emmanuel Silveira‐Moriyama, Laura Leu‐Semenescu, Smaranda et al.

Source: Movement Disorders Clinical Practice. Feb2025, Vol. 12 Issue 2, p215-225. 11p.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Authors: Chen S Abou-Khalil BW Afawi Z et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.

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

X‐Linked Levodopa‐Responsive Parkinsonism‐Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.

Authors: Guimarães, Thiago Gonçalves Parmera, Jacy Bezerra Castro, Matheus Augusto Araújo et al.

Source: Movement Disorders Clinical Practice. May2024, Vol. 11 Issue 5, p556-566. 11p.

Ketogenic therapy in childhood and adolescence: recommendations of the Brazilian experts group.

Transliterated Title: Terapia cetogênica na infância e adolescência: recomendações do grupo de especialistas brasileiros.

Authors: de Brito Sampaio LP Henriques-Souza AMM Lin K et al.

Source: Arquivos de neuro-psiquiatria [Arq Neuropsiquiatr] 2023 Jun; Vol. 81 (6), pp. 597-606. Date of Electronic Publication: 2023 Jun 28.

Publication Type: Journal Article

Journal Info: Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

Authors: Inuzuka LM Guerra-Peixe M Macedo-Souza LI et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2021 Sep; Vol. 34, pp. 7-13. Date of Electronic Publication: 2021 Jun 21.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Therapeutic potential of cAMP-mediated lysosomal pH modulation in ATP6V1B2-related neuropathology.

Authors: Zheng L Zhao W Yang G et al.

Source: Cell death discovery [Cell Death Discov] 2026 Mar 27; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

Comprehensive evaluation of the child with global developmental delays or intellectual disability.

Authors: Aldosari, Abdullah Nasser Aldosari, T. Saeed

Source: Clinical & Experimental Pediatrics. Sep2024, Vol. 67 Issue 9, p435-446. 12p.

Parental germline mosaicism in SCN3A-related severe developmental disorder.

Authors: Inuzuka LM Macedo-Souza LI Guerra-Peixe M et al.

Source: Brain & development [Brain Dev] 2021 May; Vol. 43 (5), pp. 669-670. Date of Electronic Publication: 2021 Jan 22.

Publication Type: Letter

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

Authors: Inuzuka LM Macedo-Souza LI Della-Ripa B et al.

Source: Brain & development [Brain Dev] 2020 Oct; Vol. 42 (9), pp. 691-695. Date of Electronic Publication: 2020 Aug 07.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE

Surgically amenable epilepsies in children and adolescents: clinical, imaging, electrophysiological, and post-surgical outcome data.

Authors: Terra-Bustamante VC Fernandes RM Inuzuka LM et al.

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2005 Jul; Vol. 21 (7), pp. 546-51. Date of Electronic Publication: 2005 May 19.

Publication Type: Clinical Trial; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0256-7040 (Print) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE

Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.

Authors: Riva A Volpedo G Zara F et al.

Source: Current neurology and neuroscience reports [Curr Neurol Neurosci Rep] 2025 Sep 27; Vol. 25 (1), pp. 65. Date of Electronic Publication: 2025 Sep 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: Current Science Inc Country of Publication: United States NLM ID: 100931790 Publication Model: Electronic Cited Medium: Internet ISSN: 1534-6293 (Electronic) Linking ISSN: 15284042 NLM ISO Abbreviation: Curr Neurol Neurosci Rep Subsets: MEDLINE

Development of an online calculator for the prediction of seizure freedom following pediatric hemispherectomy using the Hemispherectomy Outcome Prediction Scale (HOPS).

Authors: Weil AG Dimentberg E Lewis E et al.

Source: Epilepsia [Epilepsia] 2024 Jan; Vol. 65 (1), pp. 46-56. Date of Electronic Publication: 2023 Nov 16.

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

Implications of ketogenic diet on weight gain, motor activity and cicatrization in Wistar rats.

Authors: Peres, Rogério Corrêa Nogueira, Danilo Barion de Paula Guimarães, Gabriela et al.

Source: Toxicology Mechanisms & Methods. Feb2013, Vol. 23 Issue 2, p144-149. 6p. 2 Charts, 4 Graphs.

CHAPTER 11: OCCIPITAL LOBE NONCONVULSIVE STATUS EPILEPTICUS.

Authors: JOBST, BARBARA C. ROBERTS, DAVID W. WILLIAMSON, PETER D.

Source: Nonconvulsive Status Epilepticus. 2009, p139-150. 12p. 3 Black and White Photographs, 1 Diagram, 3 Charts, 2 Graphs.

Neurocysticercotic Calcifications and Hippocampal Sclerosis: A Case-Control Study.

Authors: de Oliveira Taveira, Mateus Morita, Marcia Elisabete Yasuda, Clarissa Lin et al.

Source: PLoS ONE. 7/1/2015, Vol. 10 Issue 7, p1-13. 13p.

The Management of Pharmacologically Refractory Epilepsy.

Authors: Carrette, Evelien Vonck, Kristl Boon, Paul

Source: Current Medical Literature: Neurology. 2010, Vol. 26 Issue 4, p104-121. 18p. 1 Diagram, 1 Chart, 1 Graph.

Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects.

Authors: Wang PY Zhao JX Liu WH et al.

Source: Frontiers in neurology [Front Neurol] 2026 Feb 05; Vol. 17, pp. 1772239. Date of Electronic Publication: 2026 Feb 05 (Print Publication: 2026).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Author Index.

Source: Epilepsia Sep2003 Supplement 9; Vol. 44.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0013-9580

Epilepsia Vol. 46, 2005 Author Index.

Source: Epilepsia Dec2005; Vol. 46 (12).

Journal Info: Publisher: Wiley-Blackwell ISSN: 0013-9580