From: Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
Family 1 | ||||||
Gene | Variant | AA change | Twin 1 | Twin 2 | F | M |
ATP1A3 (NM_1522969) | c.2318A > G | p.Asn773Ser | AG | AG | N/A | N/A |
Family 2 | ||||||
Gene | Variant | AA change | Brother 1 | Brother 2 | F | M |
GRIN2A (NM_001134408) | c.3175 T > A | p.Ser1059Thr | TA | TA | TA | N/D |
SCN1B (NM_001037) | c.632G > A | p.Cys211Tyr | GA | N/D | GA | N/D |
KCNQ2 (NM_172107) | c.1870G > A | p.Gly624Arg | GA | N/D | GA | N/D |