Lucia I. Souza-Macedo

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 21 publications

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

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

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: August 16, 2022

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Journal: Cold Spring Harbor molecular case studies

Published: June 27, 2022

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: December 06, 2021

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].

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].

Journal: Brain & development

Published: February 20, 2021

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

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

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 28, 2020

Parental germline mosaicism in SCN3A-related severe developmental disorder.

Parental germline mosaicism in SCN3A-related severe developmental disorder.

Journal: Brain & development

Published: September 20, 2020

ATP6V1B2-related epileptic encephalopathy.

ATP6V1B2-related epileptic encephalopathy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 30, 2020

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

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

Journal: Brain & development

Published: February 25, 2020

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

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

Journal: Brain & development

Published: May 02, 2019

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.

Journal: Neurology. Genetics

Published: August 13, 2018

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.

Journal: Arquivos de neuro-psiquiatria

Published: January 03, 2018

Showing 1-12 of 21

Last Updated: 09/26/2026