Table 2 Other genes potentially implicated in familial hemiplegic migraine (FHM)
Genes potentially implicated | Number of cases and families reported in literature | Percentage of affected subjects in the cohort by Sutherland et al, 2020 [29] | Protein encoded and role | Involvement of the gene in other conditions | References | |
|---|---|---|---|---|---|---|
PKND | 4 | 2 | 0,4% | PKND protein ➔ Interaction with proteins of the synaptic termini to modulate the release of neurotransmitters | Main gene for paroxysmal non-kinesigenic dyskinesia | |
SLC4A4 | 15 | 11 | 3,9% | Na + −HCO3 NBCe1 cotransporter ➔ Expressed in astrocytes, regulation of synaptic pH and neurotransmission | Renal tubular acidosis | |
ATP1A3 | 3 | 3 | 0,9% | α3 subunit of the Na+/K + -ATPase pump ➔ Maintain of electrochemical gradients across neuronal membranes and regulation of excitability at inhibitory synapses | Alternating hemiplegia of childhood | |
SLC1A3 | 4 | 4 | 0,4% | EAAT1 transporter ➔ Capture of glutamate into astrocytes | Episodic ataxia type 6 | |
SLC2A1 | 6 | 6 | 1,3% | Glucose transporter GLUT1 (or EAAT2) ➔ Entry of glucose into the brain across the blood-brain barrier | Paroxysmal exercise-induced dyskinesia, De Vivo disease and GLUT1 deficiency syndrome | |
ATP1A4 | 15 | 13 | 5.2% | Sodium/potassium-transporting ATPase subunit alpha-4 | Charcot-Marie-Tooth Disease, Axonal, Type 2Dd Alternating hemiplegia of childhood | |