CNNM2 heterozygous variant presenting as hypomagnesemia and west syndrome: Expanding the spectrum of CNNM2 gene-related epileptic disorders

CNNM2 heterozygous variant presenting as hypomagnesemia and west syndrome: Expanding the spectrum of CNNM2 gene-related epileptic disorders

Bibliographic Details
Main Authors:	Prateek K Panda, Radhapyari Lourembam, Indar K Sharawat
Format:	Article
Language:	English
Published:	Wolters Kluwer Medknow Publications 2021-01-01
Series:	Annals of Indian Academy of Neurology
Online Access:	http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=5;spage=781;epage=783;aulast=Panda

Similar Items

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
by: Alejandro García-Castaño, et al.
Published: (2020-01-01)

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
by: Alejandro García-Castaño, et al.
Published: (2020-01-01)

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure
by: Min-Hua Tseng, et al.
Published: (2022-06-01)

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
by: Francisco J Arjona, et al.
Published: (2014-04-01)

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
by: Willem Bosman, et al.
Published: (2024-03-01)

The p.Pro482Ala Variant in the CNNM2 Gene Causes Severe Hypomagnesemia Amenable to Treatment with Spironolactone
by: Ioannis Petrakis, et al.
Published: (2022-06-01)

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia
by: Xiucui Li, et al.
Published: (2021-08-01)

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance
by: Han Zhang, et al.
Published: (2021-09-01)

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
by: Huajin Li, et al.
Published: (2022-03-01)

Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects
by: Gijs A. C. Franken, et al.
Published: (2021-04-01)

Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review
by: Xiaoyan Xu, et al.
Published: (2022-04-01)

Identification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
by: Mohammad Ghofrani, et al.
Published: (2019-10-01)

Inhibition of PRL-2·CNNM3 protein complex formation decreases breast cancer proliferation and tumor growth
by: Kostantin, E, et al.
Published: (2016)

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations
by: Asia Parveen, et al.
Published: (2019-09-01)

Homologs of Ancestral CNNM Proteins Affect Magnesium Homeostasis and Circadian Rhythmicity in a Model Eukaryotic Cell
by: Sergio Gil, et al.
Published: (2023-01-01)

CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.
by: Zhiyong Bai, et al.
Published: (2021-12-01)

PRL3 phosphatase active site is required for binding the putative magnesium transporter CNNM3
by: Huizhi Zhang, et al.
Published: (2017-03-01)

Structural insights into regulation of CNNM-TRPM7 divalent cation uptake by the small GTPase ARL15
by: Luba Mahbub, et al.
Published: (2023-07-01)

Erratum: PRL3 phosphatase active site is required for binding the putative magnesium transporter CNNM3
by: Huizhi Zhang, et al.
Published: (2017-07-01)

Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
by: Daisuke Yamazaki, et al.
Published: (2013-01-01)

Mg2+ Extrusion from Intestinal Epithelia by CNNM Proteins Is Essential for Gonadogenesis via AMPK-TORC1 Signaling in Caenorhabditis elegans.
by: Tasuku Ishii, et al.
Published: (2016-08-01)

Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
by: Hans U Luder, et al.
Published: (2013-01-01)

Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment
by: Zhongju Wang, et al.
Published: (2021-05-01)

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
by: Krishan K. Vishnolia, et al.
Published: (2020-09-01)

Association of autism spectrum disorder with pre-symptomatic duchenne muscular dystrophy: Isolated elevation of transaminases as a diagnostic clue
by: Prateek K Panda, et al.
Published: (2021-01-01)

Commentary: 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
by: Daniela Sorriento, et al.
Published: (2020-10-01)

Development and characterization of nanobodies that specifically target the oncogenic Phosphatase of Regenerating Liver-3 (PRL-3) and impact its interaction with a known binding partner, CNNM3.
by: Caroline N Smith, et al.
Published: (2023-01-01)

Development and characterization of nanobodies that specifically target the oncogenic Phosphatase of Regenerating Liver-3 (PRL-3) and impact its interaction with a known binding partner, CNNM3
by: Caroline N. Smith, et al.
Published: (2023-01-01)

Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
by: Feng Zhang, et al.
Published: (2022-07-01)

Neuropsychological testing in patients in juvenile myoclonic epilepsy: Are they required in every patient?
by: Prateek Kumar Panda, et al.
Published: (2022-01-01)

Mitochondrial membrane protein-associated neurodegeneration due to novel homozygous mutation in the C19orf12 gene
by: Indar K Sharawat, et al.
Published: (2021-01-01)

Endemic Fluorosis and Cognitive Dysfunction in School Going Children: Any Link?
by: Prateek Kumar Panda, et al.
Published: (2021-01-01)

New-onset seizures due to heroin addiction
by: Prateek Kumar Panda, et al.
Published: (2021-01-01)

Pediatric acute-onset neuropsychiatric syndrome with capgras syndrome
by: Indar Kumar Sharawat, et al.
Published: (2021-01-01)

Nummular headache: A rare headache type in a child responding to carbamazepine and gabapentin
by: Prateek Kumar Panda, et al.
Published: (2021-01-01)

Pyridoxine trial in early infantile epileptic encephalopathy: Never forget!
by: Indar Kumar Sharawat, et al.
Published: (2020-01-01)

Distinctive imaging in a toddler with joubert's syndrome
by: Indar Kumar Sharawat, et al.
Published: (2021-01-01)

Development and validation of an outpatient clinical predictive score for the diagnosis of duchenne muscular dystrophy/becker muscular dystrophy in children aged 2–18 Years
by: Indar Kumar Sharawat, et al.
Published: (2023-01-01)

Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
by: Alejandro García‐Castaño, et al.
Published: (2020-11-01)

Developmental delay and epilepsy without gigantism: An unusual presentation of soto's syndrome due to a novel mutation in the NSD1 gene
by: Prateek Kumar Panda, et al.
Published: (2022-01-01)