Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism

Herini, Elisabeth Siti; Patria, Yudha Nur; Gunadi, Gunadi; Yusoff, Surini; Harahap, Indra Sari Kusuma; Sunartini, Sunartini; Sutaryo, Sutaryo; Takada, Satoshi; Nishio, Hisahide

doi:10.14238/pi50.3.2010.125-32

Cited by 1 publication

(1 citation statement)

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“…The theory that SCN2A variants have opposite effects on NaV1.2 performance in infantile seizures and ASD is raised by these findings (Ben-Shalom et al, 2017). Diseases, such as myoclonic epilepsy, borderline personality disorder, and autism, are caused by mutations in the SCN2A gene (Herini et al, 2010). The variant R542Q in the SCN1A gene has also been observed in patients with autism and myoclonic epilepsy (Weiss et al, 2003).…”

Section: Autismmentioning

confidence: 99%

The effect of sodium channels on neurological/neuronal disorders: A systematic review

Bagheri

Haddadi

Saki

et al. 2021

Intl J of Devlp Neuroscience

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Neurological and neuronal disorders are associated with structural, biochemical, or electrical abnormalities in the nervous system. Many neurological diseases have not yet been discovered. Interventions used for the treatment of these disorders include avoidance measures, lifestyle changes, physiotherapy, neurorehabilitation, pain management, medication, and surgery. In the sodium channelopathies, alterations in the structure, expression, and function of voltage-gated sodium channels (VGSCs) are considered as the causes of neurological and neuronal diseases. Online databases, including Scopus, Science Direct, Google Scholar, and PubMed were assessed for studies published between 1977 and 2020 using the keywords of review, sodium channels blocker, neurological diseases, and neuronal diseases. VGSCs consist of one α subunit and two β subunits. These subunits are known to regulate the gating kinetics, functional characteristics, and localization of the ion channel. These channels are involved in cell migration, cellular connections, neuronal pathfinding, and neurite outgrowth. Through the VGSC, the action potential is triggered and propagated in the neurons. Action potentials are physiological functions and passage of impermeable ions. The electrophysiological properties of these channels and their relationship with neurological and neuronal disorders have been identified. Subunit mutations are involved in the development of diseases, such as epilepsy, multiple sclerosis, autism, and Alzheimer's disease. Accordingly, we conducted a review of the link between VGSCs and neurological and neuronal diseases. Also, novel therapeutic targets were introduced for future drug discoveries.

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Section: Autismmentioning

confidence: 99%