Cargando…

A Rare Case of Lethal Neonatal Rigidity and Multi-Focal Seizure Syndrome

We present a case of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) in an early-term female infant born to non-consanguineous parents. RMFSL is a recently discovered autosomal recessive disease caused by the BRAT1 gene mutations. The BRAT1 gene encodes the BRCA1-associated protein...

Descripción completa

Detalles Bibliográficos
Autores principales:	Balasundaram, Palanikumar, Fijas, Melanie, Nafday, Suhas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8007887/ https://www.ncbi.nlm.nih.gov/pubmed/33816000 http://dx.doi.org/10.7759/cureus.13600

Ejemplares similares

Unveiling Peripherally Inserted Central Catheter Fractures and Related Complications in the Neonatal Intensive Care Unit: A Concise Review
por: Balasundaram, Palanikumar, et al.
Publicado: (2023)

A Improving Birth-dose Hepatitis-B Vaccination in a Tertiary Level IV Neonatal Intensive Care Unit
por: Avulakunta, Indirapriya, et al.
Publicado: (2023)

Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1
por: Celik, Yalcin, et al.
Publicado: (2017)

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome
por: Li, Shan, et al.
Publicado: (2022)

Neonatal Intensive Care Unit to Home Discharge Communication: A Quality Improvement Project
por: Pattnaik, Priyam, et al.
Publicado: (2023)

Idiopathic Primary Hypoparathyroidism Presenting as Focal Seizures in a Neonate: A Rare Occurrence
por: Almas, Talal, et al.
Publicado: (2020)

Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
por: Komlosi, Katalin, et al.
Publicado: (2021)

Unraveling Leukocyte Profile Shifts and Platelet Dynamics Following Leukoreduced Packed Red Cell Transfusions in Very Low Birth Weight Preterm Neonates
por: Balasundaram, Palanikumar, et al.
Publicado: (2023)

Congenital Central Hypoventilation Syndrome Presenting with Seizures
por: Binmanee, Abdulaziz, et al.
Publicado: (2020)

Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study
por: Akasaka, Manami, et al.
Publicado: (2020)

CEP55-associated lethal fetal syndrome: a case report of a Chinese family
por: Wang, Yeping, et al.
Publicado: (2023)

Multi-view graph convolutional network for cancer cell-specific synthetic lethality prediction
por: Fan, Kunjie, et al.
Publicado: (2023)

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
por: Teleanu, Raluca Ioana, et al.
Publicado: (2023)

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
por: Chen, Caiyuan, et al.
Publicado: (2023)

Focal seizure as a manifestation of serotonin syndrome: case report
por: Almallouhi, Eyad, et al.
Publicado: (2019)

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report
por: Zhuang, Jianlong, et al.
Publicado: (2022)

A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period
por: Sharif, Saima, et al.
Publicado: (2022)

A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
por: Guo, Yi, et al.
Publicado: (2020)

Multi-omics analysis reveals focal adhesion characteristic associated tumor immune microenvironment in colon adenocarcinoma
por: Xu, Xiaoming, et al.
Publicado: (2023)

A Rare Case of Primary Sjogren’s Syndrome Coexisting With Gilbert Syndrome
por: Zhang, Lin, et al.
Publicado: (2023)

A Rare Combination of Heptadactyl and Hexadactyl Polydactyly in a Neonate
por: Mujalda, Jagdish, et al.
Publicado: (2023)

Linear Nevus Sebaceous Syndrome in a Child With Infantile Spasms and Focal Cortical Dysplasia
por: Salman, Shahad, et al.
Publicado: (2021)

Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
por: Yang, Li, et al.
Publicado: (2018)

Editorial: Non-lethal approaches in environmental science
por: Simmons, Denina B. D., et al.
Publicado: (2022)

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China
por: Cai, Luhang, et al.
Publicado: (2021)

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
por: Straniero, Letizia, et al.
Publicado: (2018)

A review of the genomics of neonatal abstinence syndrome
por: Yen, Elizabeth, et al.
Publicado: (2023)

Unusual seizure evolution: Focal-general-focal-general
por: Smelick, Christopher, et al.
Publicado: (2018)

Influence of Dominance and Drift on Lethal Mutations in Human Populations
por: Waxman, David, et al.
Publicado: (2020)

RAD52: Paradigm of Synthetic Lethality and New Developments
por: Rossi, Matthew J., et al.
Publicado: (2021)

Computational modelling of micro-seizures and focal seizure onset
por: Wang, Yujiang, et al.
Publicado: (2013)

Arousal and Consciousness in Focal Seizures
por: Blumenfeld, Hal
Publicado: (2021)

Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1
por: Xiao, Shi-qi, et al.
Publicado: (2020)

Michelin Tire Baby Syndrome: A Rare Case with Review of Literature
por: Malik, Farheen, et al.
Publicado: (2019)

An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas
por: Ramirez-Arenalde, Michael A, et al.
Publicado: (2021)

A Rare Case Report of Crigler Najjar Syndrome Type II
por: Abdul Raffay, Eusha, et al.
Publicado: (2021)

Bardet-Biedl Syndrome: A Rare Case From Ophthalmology Perspective
por: Alhamoud, Mustafa, et al.
Publicado: (2022)

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality
por: Zhou, Jichao, et al.
Publicado: (2023)

Neonatal idiopathic primary hypoparathyroidism: A rare cause of neonatal seizures
por: Hussain, Shabbir, et al.
Publicado: (2015)

Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures
por: Ewida, Amr, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_fs56gu7ks9178cd1erjh4g0efu