TY - JOUR
T1 - Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations
AU - Kohashi, Kosuke
AU - Ishiyama, Akihiko
AU - Yuasa, Shota
AU - Tanaka, Tomomi
AU - Miya, Kazushi
AU - Adachi, Yuichi
AU - Sato, Noriko
AU - Saitsu, Hirotomo
AU - Ohba, Chihiro
AU - Matsumoto, Naomichi
AU - Murakami, Yoshiko
AU - Kinoshita, Taroh
AU - Sugai, Kenji
AU - Sasaki, Masayuki
N1 - Publisher Copyright:
© 2017 The Japanese Society of Child Neurology
PY - 2018/1
Y1 - 2018/1
N2 - We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum. Whole-exome sequencing revealed compound heterozygous mutations in PIGT (c.250 G > T, p.Glu84X and c.1096 G > T, p.Gly366Trp), which encodes a subunit of the GPI transamidase complex. Flow cytometry revealed decreased expression of CD16 (a GPI anchor protein) on granulocytes, supporting the putative pathogenicity of the mutations. Phenobarbital, clonazepam, and potassium bromide decreased the frequency of tonic seizure and acetazolamide decreased epileptic apnea. To our knowledge, this is the first reported case of intractable seizures accompanied by epileptic apnea associated with GPI anchor deficiency and a compound PIGT mutation.
AB - We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum. Whole-exome sequencing revealed compound heterozygous mutations in PIGT (c.250 G > T, p.Glu84X and c.1096 G > T, p.Gly366Trp), which encodes a subunit of the GPI transamidase complex. Flow cytometry revealed decreased expression of CD16 (a GPI anchor protein) on granulocytes, supporting the putative pathogenicity of the mutations. Phenobarbital, clonazepam, and potassium bromide decreased the frequency of tonic seizure and acetazolamide decreased epileptic apnea. To our knowledge, this is the first reported case of intractable seizures accompanied by epileptic apnea associated with GPI anchor deficiency and a compound PIGT mutation.
KW - Epileptic apnea
KW - Gamma-aminobutyric acid
KW - Glycosylphosphatidylinositol anchor deficiency
KW - Multiple congenital anomalies-hypotonia-seizures syndrome-3
UR - http://www.scopus.com/inward/record.url?scp=85024131953&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2017.06.005
DO - 10.1016/j.braindev.2017.06.005
M3 - 学術論文
C2 - 28728837
AN - SCOPUS:85024131953
SN - 0387-7604
VL - 40
SP - 53
EP - 57
JO - Brain and Development
JF - Brain and Development
IS - 1
ER -