Cargando…

CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders

Detalles Bibliográficos
Autores principales:	Panda, Prateek K., Lourembam, Radhapyari, Sharawat, Indar K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8680880/ https://www.ncbi.nlm.nih.gov/pubmed/35002148 http://dx.doi.org/10.4103/aian.AIAN_1130_20

Ejemplares similares

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
por: García-Castaño, Alejandro, et al.
Publicado: (2020)

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure
por: Tseng, Min-Hua, et al.
Publicado: (2022)

CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia
por: Arjona, Francisco J., et al.
Publicado: (2014)

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)
por: Franken, Gijs A. C., et al.
Publicado: (2021)

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone
por: Petrakis, Ioannis, et al.
Publicado: (2022)

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia
por: Li, Xiucui, et al.
Publicado: (2021)

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort
por: Prasov, Lev, et al.
Publicado: (2020)

Current Structural Knowledge on the CNNM Family of Magnesium Transport Mediators
por: Giménez-Mascarell, Paula, et al.
Publicado: (2019)

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
por: Zhang, Han, et al.
Publicado: (2021)

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
por: Li, Huajin, et al.
Publicado: (2022)

Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review
por: Xu, Xiaoyan, et al.
Publicado: (2022)

Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects
por: Franken, Gijs A. C., et al.
Publicado: (2021)

Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4
por: Giménez-Mascarell, Paula, et al.
Publicado: (2019)

Burst kinetics and CNNM binding are evolutionarily conserved properties of phosphatases of regenerating liver
por: Fakih, Rayan, et al.
Publicado: (2023)

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature
por: Sharawat, Indar Kumar, et al.
Publicado: (2020)

A FRET-based screening method to detect potential inhibitors of the binding of CNNM3 to PRL2
por: Cai, Faji, et al.
Publicado: (2020)

Homologs of Ancestral CNNM Proteins Affect Magnesium Homeostasis and Circadian Rhythmicity in a Model Eukaryotic Cell
por: Gil, Sergio, et al.
Publicado: (2023)

PRL3 phosphatase active site is required for binding the putative magnesium transporter CNNM3
por: Zhang, Huizhi, et al.
Publicado: (2017)

CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells
por: Bai, Zhiyong, et al.
Publicado: (2021)

Inhibition of PRL-2·CNNM3 Protein Complex Formation Decreases Breast Cancer Proliferation and Tumor Growth
por: Kostantin, Elie, et al.
Publicado: (2016)

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
por: Parveen, Asia, et al.
Publicado: (2019)

Erratum: PRL3 phosphatase active site is required for binding the putative magnesium transporter CNNM3
por: Zhang, Huizhi, et al.
Publicado: (2017)

Structural insights into regulation of CNNM-TRPM7 divalent cation uptake by the small GTPase ARL15
por: Mahbub, Luba, et al.
Publicado: (2023)

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
por: Parry, David A., et al.
Publicado: (2009)

Basolateral Mg(2+) Extrusion via CNNM4 Mediates Transcellular Mg(2+) Transport across Epithelia: A Mouse Model
por: Yamazaki, Daisuke, et al.
Publicado: (2013)

Association of Autism Spectrum Disorder with Pre-symptomatic Duchenne Muscular Dystrophy: Isolated Elevation of Transaminases as a Diagnostic Clue
por: Panda, Prateek K., et al.
Publicado: (2021)

Mg(2+) Extrusion from Intestinal Epithelia by CNNM Proteins Is Essential for Gonadogenesis via AMPK-TORC1 Signaling in Caenorhabditis elegans
por: Ishii, Tasuku, et al.
Publicado: (2016)

Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene
por: Luder, Hans U., et al.
Publicado: (2013)

COVID-19 (SARS-CoV-2 Infection) and Children: Pediatric Neurologist’s Perspective
por: Panda, Prateek Kumar, et al.
Publicado: (2020)

Relationship between Serum Sodium Levels and Febrile Seizure Recurrence in Children
por: Panda, Prateek K, et al.
Publicado: (2020)

Auditory- and Visual-evoked Responses in Children and Adolescents with Epilepsy
por: Panda, Prateek K, et al.
Publicado: (2020)

Spastic Paraplegia-56 due to a Novel CYP2U1 Truncating Mutation in an Indian Boy: A New Report and Literature Review
por: Sharawat, Indar K., et al.
Publicado: (2021)

Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment
por: Wang, Zhongju, et al.
Publicado: (2021)

Cost-effectiveness of adrenocorticotropic hormone injection and oral prednisolone in patients with West syndrome: A comparative analysis
por: Sharawat, Indar Kumar, et al.
Publicado: (2023)

Studies in Zebrafish Demonstrate That CNNM2 and NT5C2 Are Most Likely the Causal Genes at the Blood Pressure-Associated Locus on Human Chromosome 10q24.32
por: Vishnolia, Krishan K., et al.
Publicado: (2020)

The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report
por: Lee, Ji Hye, et al.
Publicado: (2023)

Toddler With Frequent Falls and Neuroregression: Imaging Clues!
por: Sharawat, Indar K, et al.
Publicado: (2020)

Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients
por: Sharawat, Indar Kumar, et al.
Publicado: (2021)

Neuropsychological Testing in Patients in Juvenile Myoclonic Epilepsy: Are They Required in Every Patient?
por: Panda, Prateek Kumar, et al.
Publicado: (2022)

Acute Flaccid Paralysis in a Child: It Is Not Guillain-Barré Syndrome Always!
por: Panda, Prateek Kumar, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_8lov9lkfciaq4bc9e3c952dlaj