developmental and epileptic encephalopathy 94
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
Also known as: DEE94, EEOC, childhood onset epileptic encephalopathy, developmental and epileptic encephalopathy 94, CHCHD10-related disorders, CHD2 myoclonic encephalopathy, childhood-onset epileptic encephalopathy, epileptic encephalopathy, childhood-onset.
Category: General
Symptoms associated with developmental and epileptic encephalopathy 94
The following symptoms have been associated with developmental and epileptic encephalopathy 94 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...
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
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...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Visually-induced seizure
Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and ...
Tests used to investigate developmental and epileptic encephalopathy 94
Healthcare providers may order these tests when evaluating developmental and epileptic encephalopathy 94. 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 94, 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...
PCDH19 clustering epilepsy
PCDH19 clustering epilepsy is a medical condition that may be associated with various symptoms and signs....
X-linked intellectual disability, Cantagrel type
An X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadripa...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
developmental and epileptic encephalopathy, 6A
Any early infantile epileptic encephalopathy 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 94?
developmental and epileptic encephalopathy 94 is a health condition described in medical literature. An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
What are the symptoms of developmental and epileptic encephalopathy 94?
developmental and epileptic encephalopathy 94 is associated with 8 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Febrile convulsion, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Status epilepticus. Symptoms vary widely between individuals.
How is developmental and epileptic encephalopathy 94 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 94 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 94, please discuss your symptoms with a qualified healthcare provider.