Epilepsy-intellectual disability in females

Epilepsy-intellectual disability in females
Synonyms	EIEE9, EFMR, GEF+ syndrome, epilepsy-intellectual disability in females, Juberg-Hellman syndrome epilepsy limited to females with intellectual disability (EFID)
Classification and external resources
OMIM	300088
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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 accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis.

The National Institutes of Health Office and Rare Disease Research characterizes PCDH19 gene-related epilepsy as a rare disorder. Although formal epidemiologic data is not available, results from diagnostic screenings indicate that approximately 1 out of 10 girls who have seizure onset before five years of age may have PCDH19 mutations.

PCDH19 gene-related epilepsy is a highly variable and rare epileptic syndrome, characterized by the early-onset of seizure clusters, with a range of 4 – 60 months, and an average onset at 12.9 months. Other aspects, such as varying degrees of cognitive impairment and behavioral and psychiatric problems, are also common, but are not essential for diagnosis of PCDH19 gene-related epilepsy.

PCDH19 gene-related epilepsy shares several clinical features with other early-onset epileptic encephalopathies, such as Dravet Syndrome, Generalized epilepsy with febrile seizures plus (GEFS+), FIRES (febrile infection–related epilepsy syndrome) Lennox-Gastaut syndrome or epilepsy of unknown origin. However, the disorder has a distinct evolution of symptoms, and is associated with specific genetic mutations of the PCDH19 gene.

The hallmark characteristic of PCDH19 gene-related epilepsy is early-onset cluster seizures that often cause cyanotic spells, which start in infancy or early childhood. The onset of the first cluster of seizures usually coincides with a fever (febrile seizures), however subsequent seizures may be febrile or afebrile. The seizure clusters are generally brief seizures, lasting 1–5 minutes, often accompanied by fearful screaming observed in 63% of girls. These cluster seizures can occur more than 10 times a day over several days, with varying amounts of time between seizure clusters.

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