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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
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Italian Journal of Pediatrics

ISSN: 1824-7288

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