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- Title
CNNM2 heterozygous variant presenting as hypomagnesemia and west syndrome: Expanding the spectrum of CNNM2 gene-related epileptic disorders.
- Authors
Panda, Prateek; Lourembam, Radhapyari; Sharawat, Indar
- Abstract
The article describes the case of a four-months female infant firstborn to a non-consanguineous couple with an uneventful perinatal period, presented with flexor epileptic spasms occurring in the clusters. Topics discussed include finding on her electroencephalography (EEG) and magnetic resonance imaging (MRI) of the brain, association between hypomagnesemia and hypocalcemia, and importance of considering the possibility of underlying CNNM2 gene mutation.
- Subjects
THERAPEUTIC use of magnesium; GENETICS of epilepsy; EPILEPSY risk factors; HYPOMAGNESEMIA; ANTICONVULSANTS; COMPUTER simulation; INFANTILE spasms; GENETIC mutation; ELECTROENCEPHALOGRAPHY; SEQUENCE analysis; KIDNEYS; EPILEPSY; WATER-electrolyte balance (Physiology); DEVELOPMENTAL disabilities; DIFFERENTIAL diagnosis; DIETARY supplements; INTRAMUSCULAR injections; RISK assessment; MAGNESIUM; SEIZURES (Medicine); RARE diseases; ADRENOCORTICOTROPIC hormone; DISEASE risk factors
- Publication
Annals of Indian Academy of Neurology, 2021, Vol 24, Issue 5, p781
- ISSN
0972-2327
- Publication type
Case Study
- DOI
10.4103/aian.AIAN_1130_20