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The International Journal of the Royal Society of Thailand
Volume XI - 2019

Table 2 Examples of precision medicine applied to neurology

Disorder (Gene) Gene function Precision therapy
Pyridoxal 5’ phosphate responsive Pyridoxine 5’ Pyridoxal 5’ phosphate +
epilepsy (PNPO) phosphate oxidase
Pyridoxine dependent epilepsy Aldehyde Pyridoxine (vitamin B6) +
(ALHD7A1) dehydrogenase
Glucose transporter 1 deficiency Solute-carrier Ketogenic diet +
(SLC2A1) (glucose transporter)

Early infantile epileptic Sodium channel Avoid sodium channel blockers
+
encephalopathy type 6 (SCN1A) subunit (phenytoin, carbamazepine)
Early infantile epileptic Sodium channel Sodium channel blockers*
encephalopathy type 11 (SCN2A) subunit

Early infantile epileptic Sodium channel Sodium channel blockers*
encephalopathy type 13 (SCN8A) subunit

Early infantile epileptic Potassium channel Sodium channel blockers*
encephalopathy type 7 (KCNQ2) subunit

Early infantile epileptic Synaptic vesicle Levetiracetam*
encephalopathy type 4 (STXBP1)

Episodic kinesigenic dyskinesia Synaptic transmission Carbamazepine +
(PRRT2)

Tuberous sclerosis m-TOR pathways Everlolimus, mTOR pathway
(mTOR, TSC1, TSC2) regulators inhibitors
Ataxia with isolated vitamin E Transport of alpha- Vitamin E +
deficiency (TTPA) tocopherol from
liposomes
Congenital myasthenic syndrome Acetylcholinesterase Ephedrine +
(COLQ)
Sorbitol dehydrogenase deficiency Sorbitol dehydrogenase Sorbitol dehydrogenase
with peripheral neuropathy (SORD) inhibitor±

Spinal muscular atrophy (SMN1) Survival motor neuron Gene therapy, Antisense
protein oligonucleotide +

Duchenne muscular dystrophy Dystrophin protein Antisense oligonucleotide +
(DMD)
+ established benefit
* potential benefit
±Therapies under investigation

Ponghatai Boonsimma
Kanya Suphapeetiporn 83

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