ABSTRACT
More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI).From the synthesis of GPI anchors,binding to proteins to localization on cell membranes,these processes are regulated by a wide range of genes,including PIG genes such as PIGA,PIGB,PIGC,and PGAP genes such as PGAP1,PGAP2,etc.Recently,the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now,the inheritance and clinical features,treatment and genotype/phenotype associated with PIG/PGAP gene related diseases,were reviewed.
ABSTRACT
Objective@#To investigate the clinical features of childhood epilepsy with occipital paroxysms.@*Methods@#The clinical data of 33 children admitted to our hospital from 2015 to 2019 were retrospectively analyzed.@*Results@#The children were divided into three groups: idiopathic group (n=20), structural group (n=10) and genetic group (n=3). Among the structural etiology group, there were 1 case of megagyrus malformation, 1 case of focal cortical dysplasia type Ⅱ (FCDⅡ), 1 case of gestational age infant with enlarged ventricle, and 7 cases of perinatal ischemic-hypoxic encephalopathy (HIE). In the genetic group, there were 1 case of PCDH19 gene mutation, 1 case of cyclin-dependent kinase like 5 (CDKL5) deficiency disorder and 1 case of Wolf-Hirschhorn syndrome. All three groups had ocular motor symptoms and secondary motor symptoms. Compared with the structural group, patients of the idiopathic group had more autonomic symptoms, less visual symptoms, longer ictal duration, less episodes, less abnormal background rhythm, and more epileptic discharges in the frontal lobe or Rolandic area. The genetic group had frequent seizures and the CDKL5 deficiency disorder patient had slowed background and spasms. Compared with the other two groups, patients of the idiopathic group had fewer MRI abnormalities, better seizure control effect, and better prognosis.@*Conclusions@#There are many causes of childhood epilepsy with occipital paroxysms. The idiopathic group accounts for a large proportion. The visual symptoms and autonomic symptoms are different between groups. Background abnormalities are detected more often in the structural group and the genetic group, which is also helpful for differential diagnosis. The treatment options and prognosis of different groups vary greatly. The overall therapeutic effect and prognosis of the idiopathic group are better than those of the structural group and the genetic group.
ABSTRACT
More than 150 different human proteins are anchored to the outer leaflet of the plasma membrane via glycosylphosphatidylinositol (GPI). From the synthesis of GPI anchors, binding to proteins to localization on cell membranes, these processes are regulated by a wide range of genes, including PIG genes such as PIGA, PIGB, PIGC, and PGAP genes such as PGAP1, PGAP2, etc.Recently, the number of reports about PIG/PGAP gene related diseases is increasing but rarely reported in China.Now, the inheritance and clinical features, treatment and genotype/phenotype associated with PIG/PGAP gene related diseases, were reviewed.
ABSTRACT
Objective To investigate the clinical features of childhood epilepsy with occipital paroxysms.Methods The clinical data of 33 children admitted to our hospital from 2015 to 2019 were retrospectively analyzed.Results The children were divided into three groups:idiopathic group (n =20),structural group (n =10) and genetic group (n =3).Among the structural etiology group,there were 1 case of megagyrus malformation,1 case of focal cortical dysplasia type Ⅱ (FCD Ⅱ),1 case of gestational age infant with enlarged ventricle,and 7 cases of perinatal ischemic-hypoxic encephalopathy (HIE).In the genetic group,there were 1 case of PCDH19 gene mutation,1 case of cyclin-dependent kinase like 5 (CDKL5) deficiency disorder and 1 case of Wolf-Hirschhorn syndrome.All three groups had ocular motor symptoms and secondary motor symptoms.Compared with the structural group,patients of the idiopathic group had more autonomic symptoms,less visual symptoms,longer ictal duration,less episodes,less abnormal background rhythm,and more epileptic discharges in the frontallobe or Rolandic area.The genetic group had frequent seizures and the CDKL5 deficiency disorder patient had slowed background and spasms.Compared with the other two groups,patients of the idiopathic group had fewer MRI abnormalities,better seizure control effect,and better prognosis.Conclusions There are many causes of childhood epilepsy with occipital paroxysms.The idiopathic group accounts for a large proportion.The visual symptoms and autonomic symptoms are different between groups.Background abnormalities are detected more often in the structural group and the genetic group,which is also helpful for differential diagnosis.The treatment options and prognosis of different groups vary greatly.The overall therapeutic effect and prognosis of the idiopathic group are better than those of the structural group and the genetic group.