Table Info

Table 3.

Genetic disorders and relative approach of precision medicine

Genetic disorder	Approach of precision medicine	Reference
GLUT1 deficiency	Ketogenic diet addresses the transport dysfunction and managing seizures and paroxysmal activities	[30]
Pyridoxine-dependent epilepsy	Direct impact on genetic epilepsies is shown on vitamin B6 therapies	[30]
KCNQ2, SCN1A, SCN2A mutations	Sodium channel blockers applied for certain mutations	[30]
mTORopathies	mTOR inhibitors used as targeted therapy	[30]
Exome and genome sequencing	Enhanced genotype-phenotype correlations, guiding pyridoxine supplementation	[31]
KCNT1-related epileptic disorders	Quinidine use as genotype-directed therapy	[32]
KCNQ2-related epilepsy	Analysis of treatment approaches for precision medicine	[33]

Declarations

Author contributions

AS: Conceptualization, Writing—original draft. KH: Writing—original draft, Writing—review & editing. A Zafar: Validation, Writing—review & editing. A Zainab: Conceptualization, Writing—original draft, Writing—review & editing. SA: Conceptualization, Supervision. All authors read and approved the submitted version.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

Not applicable.

Copyright

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