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Table 1 Mutational results of Family 1 (Case 1 and Case 2) and Family 2 (Case 3 and Case 4)

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
  1. Abbreviations: F father, M mother, AA aminoacid, Heterozygous AG (family 1), TA GA (family 2), N/A not available, N/D not detected