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

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

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

Teaching Video NeuroImage: Dystonic Cataplexy in KCNMA1 Paroxysmal Movement Disorder.

Authors: de Gusmao CM Garcia L Inuzuka LM et al.

Source: Neurology [Neurology] 2022 Nov 29; Vol. 99 (22), pp. 1010-1011. Date of Electronic Publication: 2022 Sep 20.

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

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

Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].

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

Source: Brain & development [Brain Dev] 2021 May; Vol. 43 (5), pp. 671. Date of Electronic Publication: 2021 Feb 16.

Publication Type: Published Erratum

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; PubMed not MEDLINE

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

ATP6V1B2-related epileptic encephalopathy.

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

Source: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2020 Jun 01; Vol. 22 (3), pp. 317-322.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

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

Source: Brain & development [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 211-216. Date of Electronic Publication: 2019 Oct 31.

Publication Type: Case Reports; Journal Article; Review

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

Outcome of hemispheric surgeries for refractory epilepsy in pediatric patients.

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

Source: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2007 Mar; Vol. 23 (3), pp. 321-6. Date of Electronic Publication: 2006 Nov 07.

Publication Type: 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

Clinical features of patients with posterior cortex epilepsies and predictors of surgical outcome.

Authors: Dalmagro CL Bianchin MM Velasco TR et al.

Source: Epilepsia [Epilepsia] 2005 Sep; Vol. 46 (9), pp. 1442-9.

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

Journal Info: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print Cited Medium: Print ISSN: 0013-9580 (Print) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia 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

Pontine activation during focal status epilepticus secondary to hamartoma of the floor of the fourth ventricle.

Authors: Pontes-Neto OM Wichert-Ana L Terra-Bustamante VC et al.

Source: Epilepsy research [Epilepsy Res] 2006 Mar; Vol. 68 (3), pp. 265-7. Date of Electronic Publication: 2005 Dec 27.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Publishers Country of Publication: Netherlands NLM ID: 8703089 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0920-1211 (Print) Linking ISSN: 09201211 NLM ISO Abbreviation: Epilepsy Res Subsets: MEDLINE

Suppression of obsessive-compulsive symptoms after epilepsy surgery.

Authors: Guarnieri R Araújo D Carlotti CG Jr et al.

Source: Epilepsy & behavior : E&B [Epilepsy Behav] 2005 Sep; Vol. 7 (2), pp. 316-9.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 100892858 Publication Model: Print Cited Medium: Print ISSN: 1525-5050 (Print) Linking ISSN: 15255050 NLM ISO Abbreviation: Epilepsy Behav Subsets: MEDLINE

Cognitive performance of patients with mesial temporal lobe epilepsy and incidental calcified neurocysticercosis.

Authors: Terra-Bustamante VC Coimbra ER Rezek KO et al.

Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2005 Aug; Vol. 76 (8), pp. 1080-3.

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

Journal Info: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J Neurol Neurosurg Psychiatry Subsets: MEDLINE

Acute renal failure in renal allograft recipients and patients with native kidneys.

Authors: Carvalho MF Barretti P Inuzuka LM et al.

Source: Renal failure [Ren Fail] 1997 Mar; Vol. 19 (2), pp. 259-65.

Publication Type: Comparative Study; Journal Article

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print Cited Medium: Print ISSN: 0886-022X (Print) Linking ISSN: 0886022X NLM ISO Abbreviation: Ren Fail Subsets: MEDLINE