developmental and epileptic encephalopathy, 2
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
Also known as: CDKL5 early infantile epileptic encephalopathy, DEE2, EIEE2, developmental and epileptic encephalopathy 2, X-linked dominant, developmental and epileptic encephalopathy, 2, early infantile epileptic encephalopathy caused by mutation in CDKL5, epileptic encephalopathy, early infantile, 2, epileptic encephalopathy, early infantile, type 2.
Category: General
Symptoms associated with developmental and epileptic encephalopathy, 2
The following symptoms have been associated with developmental and epileptic encephalopathy, 2 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Multifocal seizures
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate developmental and epileptic encephalopathy, 2
Healthcare providers may order these tests when evaluating developmental and epileptic encephalopathy, 2. 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, 2, which is why a clinical evaluation is important.
Christianson syndrome
Christianson syndrome is a medical condition that may be associated with various symptoms and signs....
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities is a medical condition that ma...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is developmental and epileptic encephalopathy, 2?
developmental and epileptic encephalopathy, 2 is a health condition described in medical literature. Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.
What are the symptoms of developmental and epileptic encephalopathy, 2?
developmental and epileptic encephalopathy, 2 is associated with 7 symptoms in the medical literature we index, including Constipation, Deeply set eye, Gastroesophageal reflux, Generalized myoclonic seizure, Generalized-onset seizure, Multifocal seizures. Symptoms vary widely between individuals.
How is developmental and epileptic encephalopathy, 2 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, 2 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, 2, please discuss your symptoms with a qualified healthcare provider.