Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Sep-Oct;24(5):781-783.
doi: 10.4103/aian.AIAN_1130_20. Epub 2021 Feb 4.

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

Affiliations

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

Prateek K Panda et al. Ann Indian Acad Neurol. 2021 Sep-Oct.
No abstract available

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
A sedated electroencephalogram at 4-months of age (international 10-20 system, average montage, sensitivity: 7μV/mm, sweep speed: 30 mm/sec, low filter: 1 Hz and high filter 70 Hz) showing disorganized, asynchronous, chaotic high amplitude slow waves activity with interspersed multifocal spikes suggestive of Hypsarrhythmia
Figure 2
Figure 2
A sedated electroencephalogram at 16-months of age (international 10-20 system, bipolar montage, sensitivity: 7.5μV/mm, sweep speed: 30 mm/sec, low filter: 1 Hz and high filter 70 Hz) showing asymmetric and asynchronous generalized (frontal dominant), high amplitude spike-slow wave complexes with frequent polyspikes

Similar articles

Cited by

References

    1. Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011;45:355–67. - PMC - PubMed
    1. Peng J, Wang Y, He F, Chen C, Wu L-W, Yang L-F, et al. Novel West syndrome candidate genes in a Chinese cohort. CNS Neurosci Ther. 2018;24:1196–206. - PMC - PubMed
    1. Sharawat IK, Kasinathan A, Sahu JK, Sankhyan N. Response to carbamazepine in KCNQ2 related early infantile epileptic encephalopathy. Indian J Pediatr. 2019;86:301–2. - PubMed
    1. Sharawat IK, Yadav J, Saini L. Novel GRIN2B mutation: A rare cause of severe epileptic encephalopathy. Neurol India. 2019;67:562–3. - PubMed
    1. Sood A, Grover N, Sharma R. Biochemical abnormalities in neonatal seizures. Indian J Pediatr. 2003;70:221–4. - PubMed