Table 1

Mutations identified in CSNBX patients

Family	Exon	DNA		Function
Family	Exon	Position*†	Change	Amino acid no.	Change
*Position according to AF067227.
†Position 1 at ATG start site according to AJ278865.
CACNA1F mutations*
X10	7	637	G→T	213	Nonsense Glu→Stop
X11	9	1023	delC	341	Frameshift
X12	24	2719	C→T	904	Nonsense Arg→Stop
NYX mutations†
X03	2	37+1	G→C	—	Splicing
X04, X06	3a	339–353	15 bp deletion	114–118	ELRLA deletion
X01, X07	3b	647	A→G	216	Missense Asn→Ser
X08	3c	895	C→T	299	Nonsense Gln→Stop
X05, X09	3c–d	1122–1457	335 bp deletion	374–481	Truncated