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	[33, 34]
SLC4A4	15	11	3,9%	Na + −HCO3 NBCe1 cotransporter ➔ Expressed in astrocytes, regulation of synaptic pH and neurotransmission	Renal tubular acidosis	[35–37]
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	[38, 39]
SLC1A3	4	4	0,4%	EAAT1 transporter ➔ Capture of glutamate into astrocytes	Episodic ataxia type 6	[40–43]
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	[33, 44–47]
ATP1A4	15	13	5.2%	Sodium/potassium-transporting ATPase subunit alpha-4	Charcot-Marie-Tooth Disease, Axonal, Type 2Dd Alternating hemiplegia of childhood	[29, 48]