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Doctor insights on: Mutation That Cause Epilepsy

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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Is there a loss of sensorium in myoclonic epilepsy? And can it be inherited as autosomal dominant ?

Is there a loss of sensorium in myoclonic epilepsy?
And can it be inherited as autosomal dominant ?

Myoclonic Epilepsy : is a group of I epilepsies. The progressive myoclonic epilepsies have different patterns of inheritance. Some are associated with changes in sensorium. Ask your OB if molecular genetic testing like Chromosomal Microarray is available. If the affected family member(s) & both parents can be tested, a geneticist or genetic counselor can give you the answer you seek. ...Read more

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I know several people in one family that developed Schoenfeld's Syndrome from vaccines. What is the genetic abnormality that causes this rare event?

I know several people in one family that developed Schoenfeld's Syndrome from vaccines.  What is the genetic abnormality that causes this rare event?

No real disorder yet: "Autoimmune/inflammatory syndrome induced by adjuvants" is a hypothesis proposed by Dr. Schoenfeld, for a group of symptoms that may be related to exposure to adjuvants. A syndrome is just a group of symptoms that seem to be related or proven to be related. As more research is done in the future, we will be able to tell if this is a real disorder or not (time will tell). ...Read more

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What chromosome carries the gene that can cause dwarfism?

What chromosome carries the gene that can cause dwarfism?

Probably all of them: There are a few hundred different genetic loci that produce dwarfism. Achondroplastic dwarfism is usually the result of a mutation on chromosome 4. ...Read more

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Can mutations in certain grandparents cause Asperger syndrome in grandchildren?

Can mutations in certain grandparents cause Asperger syndrome in grandchildren?

Possible: Certainly there are genetic tendencies, but they are not commercially available to test. And even if there is a family history there is no way to know for sure that that gene trait will be passed. Some genetic abnormalities are spontaneous mutations. ...Read more

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Where does the mutation occur that causes hemoglobin thalassemia?

Several types: http://www.nature.com/gim/journal/v12/n2/full/gim201012a.html This will give you some sense of the complexity. The mutations involve portions of the genome that govern the rate at which chains are made. ...Read more

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Is there a condition that could cause febrile convulsions, microcephaly, dyspraxia?

Is there a condition that could cause febrile convulsions, microcephaly, dyspraxia?

Many possible causes: there are many possible conditions that can give these symptoms. Speak to your pediatrician or consult a pediatric neurologist. ...Read more

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What are some fatal genetic disorders that affect only males?

What are some fatal genetic disorders that affect only males?

X-linked disorders: Recessive lethal genetic defects located on x-chromosomes affect only men, e.g., duchene muscular dystrophy, x-linked immunodeficiencies, hemophilia and there is long list of less common disorders. ...Read more

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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

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What is the mutation that causes huntington disease?

What is the mutation that causes huntington disease?

HD gene: The abnormal gene is located on chromosome 4 and codes for a protein called huntingtin. This protein has many functions in the body and the way the abnormal protein causes huntington's dis is not known, . ...Read more

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Is the genetic disorder aniridia sex linked?

Is the genetic disorder aniridia sex linked?

Nope: Aniridia, complete or partial absence of the iris, can be an isolated birth defect or part of a bigger condition, like wagr syndrome (http://www.Wagr.Org/). The gene that seems to be at the center of the problem is called pax6 and is on chromosome 11p31. Just as many boys as girls are affected. So no, aniridia is not sex-linked. ...Read more

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Do the types of seizures an epilepsy sufferer commonly change?

Do the types of seizures an epilepsy sufferer commonly change?

Yes: Not rare for seizure types to change over time. Medications may change the experience of seizures. Also age. ...Read more

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Can cerebral/white matter scarring/calcification due to TORCH infection cause temporal lobe epilepsy? Can TLE cause aggressive explosive behavior?

Yes: It is common that after sustaining scarring of the brain (due to infection, tumors, surgery or brain damage) for a person to suffer seizure type disorders such as temporal lobe epilepsy. Many symptoms accompany these disorders such as behavioral and personality changes, memory and reasoning problems, among others. Proper pharmacological treatment by a neurologist and behavioral therapy helps. ...Read more

Dr. Andrew Reeves
545 doctors shared insights

Epileptic Seizures (Definition)

Epileptic seizures. Per Mayo Clinic "Epilepsy is a central nervous system disorder (neurological disorder) in which nerve cell activity in the brain becomes disrupted, causing seizures or periods of unusual behavior, sensations and sometimes loss of ...Read more


Dr. William Singer
1,065 doctors shared insights

Seizure Disorder (Definition)

Seizure disorder also known as epilepsy, is a neurological condition in which the brain's abnormal electrical activity causes muscular convulsions and altered mental states. Epilepsy is diagnosed when an individual has ...Read more