TY - JOUR
T1 - A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
AU - Zanni, Ginevra
AU - Barresi, Sabina
AU - Cohen, Roni
AU - Specchio, Nicola
AU - Basel-Vanagaite, Lina
AU - Valente, Enza Maria
AU - Shuper, Avinoam
AU - Vigevano, Federico
AU - Bertini, Enrico
PY - 2014/5
Y1 - 2014/5
N2 - Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6. These findings expand the clinical spectrum of the syndrome and indicate NHE6 dysfunction as a new cause of electrical status epilepticus during slow-wave sleep (ESES).
AB - Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6. These findings expand the clinical spectrum of the syndrome and indicate NHE6 dysfunction as a new cause of electrical status epilepticus during slow-wave sleep (ESES).
KW - Christianson syndrome
KW - ESES
KW - NHE6
KW - SLC9A6
UR - http://www.scopus.com/inward/record.url?scp=84898009861&partnerID=8YFLogxK
U2 - 10.1016/j.eplepsyres.2014.02.009
DO - 10.1016/j.eplepsyres.2014.02.009
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AN - SCOPUS:84898009861
VL - 108
SP - 811
EP - 815
JO - Epilepsy Research
JF - Epilepsy Research
SN - 0920-1211
IS - 4
ER -