Search Results - "Inuzuka LM"

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  1. 1

    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

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  2. 2

    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

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  3. 3

    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

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  4. 4

    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

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  5. 5

    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

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  6. 6

    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

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  7. 7

    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

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