Exploration of Neuroprotective Therapy

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]

Genetic disorder

Approach of precision medicine

Reference

GLUT1 deficiency

Ketogenic diet addresses the transport dysfunction and managing seizures and paroxysmal activities

Pyridoxine-dependent epilepsy

Direct impact on genetic epilepsies is shown on vitamin B6 therapies

KCNQ2, SCN1A, SCN2A mutations

Sodium channel blockers applied for certain mutations