developmental and epileptic encephalopathy, 9
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
Also known as: DEE9, EFMR, EIEE9, Juberg-Hellman syndrome, PCDH19 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 9, developmental and epileptic encephalopathy, 9, early infantile epileptic encephalopathy caused by mutation in PCDH19, early infantile epileptic encephalopathy type 9, epileptic encephalopathy, early infantile, 9.
Category: General
Symptoms associated with developmental and epileptic encephalopathy, 9
The following symptoms have been associated with developmental and epileptic encephalopathy, 9 in medical literature. Not everyone experiences the same symptoms.
Atonic seizure
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without ...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Focal hemiclonic seizure
A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the bo...
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate developmental and epileptic encephalopathy, 9
Healthcare providers may order these tests when evaluating developmental and epileptic encephalopathy, 9. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with developmental and epileptic encephalopathy, 9, which is why a clinical evaluation is important.
Genetic epilepsy with febrile seizure plus
Genetic epilepsy with febrile seizure plus is a medical condition that may be associated with various symptoms...
Lafora disease
Lafora disease is a medical condition that may be associated with various symptoms and signs....
PCDH19 clustering epilepsy
PCDH19 clustering epilepsy is a medical condition that may be associated with various symptoms and signs....
developmental and epileptic encephalopathy, 6A
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene...
generalized epilepsy with febrile seizures plus, type 2
Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene....
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
Frequently Asked Questions
What is developmental and epileptic encephalopathy, 9?
developmental and epileptic encephalopathy, 9 is a health condition described in medical literature. Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
What are the symptoms of developmental and epileptic encephalopathy, 9?
developmental and epileptic encephalopathy, 9 is associated with 8 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalised tonic-clonic seizure without focal onset, Generalized myoclonic seizure. Symptoms vary widely between individuals.
How is developmental and epileptic encephalopathy, 9 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with developmental and epileptic encephalopathy, 9 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have developmental and epileptic encephalopathy, 9, please discuss your symptoms with a qualified healthcare provider.