Cargando…

A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations

ATP1A3 mutations have been recognized in infants and children presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tahir, Saja, Chencheri, Nidheesh, Abdalla, Abdalla A, O E Babiker, Mohamed
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8759976/ https://www.ncbi.nlm.nih.gov/pubmed/35047275 http://dx.doi.org/10.7759/cureus.20438

Ejemplares similares

The Spectrum of Neurological Manifestations of Human Herpesvirus 6 Infection in Children
por: Chencheri, Nidheesh, et al.
Publicado: (2021)

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
por: Zhang, Feng, et al.
Publicado: (2022)

Case Report: Guillain-Barré Syndrome as Primary Presentation of Systemic Lupus Erythematosus (SLE-GBS) in a Teenage Girl
por: Beshir, Elham, et al.
Publicado: (2022)

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation
por: Nugud, Ahmed A., et al.
Publicado: (2021)

A Rare Case of Postoperative Encephalopathy in Twin
por: Huang, Chenan A, et al.
Publicado: (2023)

The Oncotype DX Recurrence Score's Impact on the Management of Oestrogen-Positive/Human Epidermal Growth Factor Receptor 2-Negative, Low-Burden Axillary Status Breast Cancer (REHAB Study): Results of a Single Centre
por: Saad Abdalla Al-Zawi, Abdalla, et al.
Publicado: (2022)

Hemophilia A with a Rare Presentation of Hemarthrosis and Arthropathy Involving Multiple Joints in a Young Male Child
por: Majid, Zainab, et al.
Publicado: (2019)

Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy
por: Szuch, Eliza, et al.
Publicado: (2018)

Li-Fraumeni Syndrome, A Rarity Among Rarities: A Case Report and Review of Literature
por: Elremeli, Mariam, et al.
Publicado: (2023)

Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
por: Li, Xia, et al.
Publicado: (2022)

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature
por: Jurkute, Neringa, et al.
Publicado: (2021)

Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation, and Neuroendocrine Tumor (ROHHADNET) Syndrome: A Case Report
por: Aldirawi, Mohammed, et al.
Publicado: (2023)

Successful Treatment of a Child With Epileptic Encephalopathy With Spike-Wave Activation in Sleep and GRIN2A Variant Using Sulthiame
por: Pereira-Nunes, Joana, et al.
Publicado: (2023)

A Curious Case of a Child With Recurrent Twisting Movements of Limbs
por: Agrawal, Mukund, et al.
Publicado: (2023)

Subacute Sclerosing Panencephalitis in a Child with Recurrent Febrile Seizures
por: Kartal, Ayşe, et al.
Publicado: (2015)

Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
por: Beaman, Glenda M., et al.
Publicado: (2022)

Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series
por: Pawar, Nikhil, et al.
Publicado: (2023)

Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women
por: Ajabnoor, Ghada M. A., et al.
Publicado: (2018)

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
por: Habibzadeh, Parham, et al.
Publicado: (2020)

State of the Globe: Acute Febrile Encephalopathy
por: Agarwal, Avinash, et al.
Publicado: (2016)

Pediatric Encephalopathy and Complex Febrile Seizures
por: Yaworski, Amanda, et al.
Publicado: (2022)

A Novel DNA Methyltransferase Dnmt3a3 Splice Variant Represses Preadipocyte Proliferation and Differentiation
por: Abdalla, Bahareldin Ali, et al.
Publicado: (2020)

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation
por: Zaki, Maha, et al.
Publicado: (2017)

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum
por: Salles, Philippe A., et al.
Publicado: (2021)

Male Triple-Negative Breast Cancer
por: Qavi, Qasif, et al.
Publicado: (2021)

The Etiological Spectrum of Febrile Encephalopathy in Adult Patients: A Cross-Sectional Study from a Developing Country
por: Peidaee, Elham, et al.
Publicado: (2018)

The Genetics of Febrile Seizures
por: Ram, Dipak, et al.
Publicado: (2015)

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy
por: Liu, Xianxian, et al.
Publicado: (2022)

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
por: Fan, Yanjie, et al.
Publicado: (2018)

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations
por: Bugiardini, Enrico, et al.
Publicado: (2020)

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance
por: Jurkute, Neringa, et al.
Publicado: (2021)

Genomic Insights Into the Multiple Factors Controlling Abdominal Fat Deposition in a Chicken Model
por: Abdalla, Bahareldin A., et al.
Publicado: (2018)

Recurrent Acute Liver Failure in a Bahraini Child With a Novel Mutation of Spinocerebellar Ataxia-21
por: Isa, Hasan M, et al.
Publicado: (2023)

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
por: Wang, Ting, et al.
Publicado: (2019)

Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report
por: Hong, Pan, et al.
Publicado: (2022)

A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
por: Ren, Hai-Long, et al.
Publicado: (2022)

Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort
por: Yao, Ruen, et al.
Publicado: (2021)

Applicability of single-step genomic evaluation with a random regression model for reproductive traits in turkeys (Meleagris gallopavo)
por: Makanjuola, Bayode O., et al.
Publicado: (2022)

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

Chylomicron Retention Disease in A Male Infant: A Rare Case from Pakistan
por: Kumar, Sohail, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_dgijc82e6c7hmkm5jp07hqd0oj