How rare is PCDH19?
Who is affected? About 1 in 10 girls that begin having seizures before the age of 5 may have PCDH19 Epilepsy. The features of PCDH19 can overlap or look similar to the features in Dravet Syndrome. It is estimated that there are between 15,000 and 30,000 people with PCDH19 Epilepsy in the United States.
What does PCDH19 stand for?
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally …
What is Dravet Syndrome?
Dravet syndrome — formerly known as severe myoclonic epilepsy of infancy (SMEI) — is a genetic epilepsy, characterized by temperature-sensitive/febrile seizures, treatment-resistant epilepsy that begins in the first year of life, and differences in childhood development.
How long do people with STXBP1 live?
The mean age was 8.3 years, the standard deviation 4.7 years and the median 7 years. One of the main features in individuals with STXBP1 syndrome and that is frequently the first manifestation indicative of a disorder is the development of seizures.
How is KCNQ2 inherited?
KCNQ2-related disorders are inherited in an autosomal dominant manner. Most individuals diagnosed with KCNQ2-BFNE have an affected parent; however, a proband may have KCNQ2-BFNE as the result of a de novo pathogenic variant. Almost all individuals with KCNQ2-NEE have a de novo pathogenic variant.
Is CDKL5 a rare disease?
CDKL5 deficiency disorder appears to be a rare condition with an incidence of 1 in 40,000 to 60,000 newborns. About 90 percent of those diagnosed with CDKL5 deficiency disorder are girls.
What is Panayiotopoulos syndrome?
Background: Panayiotopoulos syndrome is a common idiopathic childhood-specific seizure disorder formally recognized by the International League Against Epilepsy. An expert consensus has defined Panayiotopoulos syndrome as “a benign age-related focal seizure disorder occurring in early and mid-childhood.