Doctor insights on:
Mutation That Cause Epilepsy
Looks like it: There is a columbian family with heritable pain syndrome and abnormal trpa1 gene. ...Read more
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
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
Is there a mutation with certain grandparents that can cause Asperger syndrome in their grandchildren?
See below: This question should be redirected to a pediatrician or medical genetics specialist. ...Read more
No : Mo.Get a more detailed answer ›
Can basal cell naevus syndrome cause problem in child without causing any problem in parents?? (because it is considered genetic)
Autosomal Dominant: The syndrome is passed on through a dominant means , so if either parent has the syndrome --it will be passed on ...Read more
No: Hla genes are inherited - half from mom and half from dad. ...Read more
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
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
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
What categories does severe combined immunodeficiency fall under? (such as single gene defect, point mutation. Chromosome abnormality, sex-linked, etc
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
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
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