Lissencephaly due to LIS1 mutation
Lissencephaly due to LIS1 mutation is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Lissencephaly due to LIS1 mutation
The following symptoms have been associated with Lissencephaly due to LIS1 mutation 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 ...
Atypical absence seizure
An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption...
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Focal motor seizure
A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation....
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate Lissencephaly due to LIS1 mutation
Healthcare providers may order these tests when evaluating Lissencephaly due to LIS1 mutation. 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 Lissencephaly due to LIS1 mutation, which is why a clinical evaluation is important.
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Developmental and epileptic encephalopathy with spike-wave activation in sleep is a medical condition that may...
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with ...
Lafora disease
Lafora disease is a medical condition that may be associated with various symptoms and signs....
STXBP1-related encephalopathy
STXBP1-related encephalopathy is a medical condition that may be associated with various symptoms and signs....
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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 Lissencephaly due to LIS1 mutation?
Lissencephaly due to LIS1 mutation is a health condition described in medical literature. Lissencephaly due to LIS1 mutation is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Lissencephaly due to LIS1 mutation?
Lissencephaly due to LIS1 mutation is associated with 7 symptoms in the medical literature we index, including Atonic seizure, Atypical absence seizure, Focal impaired awareness seizure, Focal motor seizure, Generalized myoclonic seizure, Generalized tonic seizure. Symptoms vary widely between individuals.
How is Lissencephaly due to LIS1 mutation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Lissencephaly due to LIS1 mutation 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 Lissencephaly due to LIS1 mutation, please discuss your symptoms with a qualified healthcare provider.