kim

TX, Not sure if you're aware of this or even if this was the drug your daughter was taking, but i suspect they are at least related, if not the same? http://www.medsafe.govt.nz/Profs/Datasheet...henerganinj.htm Adverse Effects Side-effects may be seen in a few patients: drowsiness, dizziness, restlessness, headaches, nightmares, tiredness, and disorientation. Anticholinergic side-effects such as blurred vision, dry mouth and urinary retention occur occasionally. Newborn and premature infants are susceptible to the anticholinergic effects of promethazine while other children may display paradoxical hyperexcitability. The elderly are particularly susceptible to the anticholinergic effects and confusion due to promethazine. Other side-effects include leucopenia, agranulocytosis, aplastic anaemia, thrombocytopenic purpura, marked irregular respiration, anorexia, gastric irritation, loss of apetite, nausea, vomiting, diarrhoea, constipation, palpitations, bradycardia, hypotension, arrhythmias, extrapyramidal effects, muscle spasms, tinnitus, euphoria, nervousness, insomnia, convulsive seizures, oculogyric crises, excitation, catatonic-like states, hysteria, tardive dyskinesia and tic-like movements of the head and face. Jaundice and blood dyscrasias including haemolytic anaemia rarely occur. Very rare cases of allergic reactions, including urticaria, rash, pruritis, and anaphylaxis have been reported. Photosensitive skin reactions have been reported; strong sunlight should be avoided during treatment. The preservatives used in PHENERGAN injection have been reported to cause hypersensitivity reactions, characterised by circulatory collapse with CNS depression, in certain susceptible individuals with allergic tendencies.

CP Something occured to me. I had to leave yesterday right after I read your last post here. All of a sudden it hit me like a ton of bricks that I might have scared you, by mentioning your son looking yellow. CP, everything i have read says that people with TS and even Autism have a normal life expectancy. I didn't mean to imply that there was anything wrong with your son! Since I have decided not to give the boys that 2nd dose of varicella vax, I've been keeping an eye out for things that can be done naturally to help them get thru it ok, if they do get it. I read that you should not give fatty foods of any kind, and I believe, lite on protein, so the liver isn't working on digestion and can work to clear the virus. I was just curious if a Dr. had mentioned anything during that time. CP, as parents i think we are all doing our best to keep our kids healthy and gather info to help us make future decisions regarding their health. The rest we will have to leave up to the one that our children truly belong to. I think he is the only one with all of the answers here. Research is fine, but my boys lives are ultimately in his hands. We can't lose site of that faith. Big hug CP, i'm so sorry if I upset you!

Kelly/Ruby, I couldn't agree more. I'm especially am down on the vax program right now, because I think it is totally out of control due to $$$$. However, what do you guys make of CP's families history? Her husbands grandmother was not overloaded with mercury or alum (or was she) anyway, what is the implication of natural virus on people who catch the things that some may be deciding not to vax for. If there is a big incidence of people deciding to stop vaccinating for MMR, varicella, etc. what will happen, especially as people get an illness that was normally caught in childhood? We are so busy fending off disease (and some are relatively benign) that we have created some monsters. My Ped told me that amox was like water on fire. Now, i read it's about 70% effective? Then, i read that's it's invading the cells in our body that are meant to protect us? These bacteria/virus have a real desire to survive, as do we! Just wonder your thoughts

Judy, Whoa! I just noticed that you said Corbin had a varicella shot at 3 mos.!? Are you sure about that? I sent a reply, that's right above Caryn's too.

CP, I think it's a great probability that she was exhibiting the defect in the way this side of the family's immune system handles virus. Increased brain permeability, for what ever reason? Was the virus West Nile? CP, i remember that your son turned yellow after the varicella vax. This would suggest his liver was not functioning properly, i believe. Did a Dr. ever see him during that time?

Judy, This is what possibly happened to your sweetie, Firstly, they don't have to be accurate with those vaccines, because they seem to believe that they are as harmless as candy. Well, neither are harmless given to the wrong person at the wrong time. They just recommended my son get another chicken pox shot, due to a mistake in his record too. The state flagged him and school sent a letter that he needed it. I knew it was recommended at this point, but not mandated (the 2nd shot). I called the health dept. They said his record showed he got the MMR on one day and the chicken pox the next. You can't do it that way. They have to be given on the same day, or it's not considered effective. I believe it was given on the same day too, but they recorded it wrong at the office (can't say this for sure). If the MMR and the chicken pox shot aren't given on the same day, your immune system is tied up with the MMR and won't develop the supposed immunity to the varicella if given the next day. I can't remember exactly how far apart they have to be, if not given on the same day, at the moment. When they do their "studies" on vaccines, this is what they look at. How much antibody did you develope, that's what they go by, period. (oh yea, if you don't go into cardiac arrest on the spot...there are no adverse events, if you do, give bendryl). Any other adverse events during their short "follow up" can never really be tied to the vaccine anyway, so they are ALL perfectly safe with the exception a tinnnnney weeeeenie %. The dire disease is by FAR worse than the odds that you will be in that teeeeeeie %. This is what we HAVE to be made to believe in order for this whole program to continue to be hugly profitable. Strep can use cells in our own bodies immune system to hide out. These cells are phagocytes and macrophage. The strep can be found intercellular in some instances. The immune system won't detect it. Titers will not be elevated (i need to double check that last remark). It's hiding and waiting until the immune system is tied up doing something else. It may be affecting the ability of these scavenger cells to do the job they were intended to do (this is my comment, I have no link to back that, but could probably come up with one). This is apparently being found to be the case with the AIDS virus too. It's present in these cells (that are designed to function in our primary immune response, the innate arm of the immune system) It spreads thru these cells to different parts of the body, but it doesn't cause mass destruction until some events come together where it strikes and full blown AIDS becomes evident. I don't know your grandson's history with strep. There are many factors to consider here. The above scenerio may apply to a child with more of a history of PANDAS symptoms. Was the strep a result of Corbins immune system reacting to chicken pox (which he should have more than enough antibodies to be protective at the point that he got that vax, so why the reaction?) I'm just not convinced that this is a PANDAS situation. Yes, he has strep and may have had it at the time of the vax, OR he could have been more vulnerable to a strep infection because of what was happening with his immune system from what was going on from that vaccine. I would insist on a viral panel. You are in a prime postition to demand whatever you want at this point. Please, please make sure that reaction is reported to VAERS. Tell your Dr. that you want it reported, and ask for a copy!

CP Did your husband get vaccines when he joined and had the need to get out? Is there a possibility that he did recieve something, that triggered anxiety? Military and vaccines are causing an uproar in some circles too. Many unexplained illnesses. Also, the difference in effects that you see btwn your son and daughter may very well be hormone related. Boys seems to be adversly affected at a higher ratio in TS as well as autism.

Great Info CP!!! I thought this study was interesting in light of PANDAS. http://www.medscape.com/viewarticle/408375_2 Conference Report - Meeting of the Child Neurology Society from Medscape Neurology & Neurosurgery Tourette Syndrome and Related Disorders Trifiletti and Bandele,[1] from New York, NY, presented an update on serum antibody characterization of an 83-kd protein, termed "ts83," in 139 children (64 with tuberous sclerosis [TS], 21 with obsessive compulsive disorder [OCD], 31 with pediatric autoimmune neuropsychiatric disorders associated with Streptococcus (PANDAS), 5 with Sydenham chorea, 11 controls, and 7 with other neuropsychiatric diagnoses). An additional 60-kd protein, termed "ts60," was found to occur with high prevalence in TS/OCD/PANDAS patients who did not display antibodies to ts83. One hundred percent of TS/OCD/PANDAS patients displayed a serum antibody to either ts83 or ts60, suggesting, according to the investigators, that the presence of either antibody is sufficient to provide a risk factor for these disorders. Trifiletti and Bandele[2] have further characterized ts83 as a tissue-specific calpain and ts60 as a tissue-specific calpastatin. Bianchini and colleagues[3] from New York, NY, and Catania, Italy, compared serum antibrain antibody with human basal ganglia sections assessed by indirect tissue immunofluorescence in 2 groups: PANDAS (22 patients with clinically active tics or OCD and 22 patients with clinically active group A beta-hemolytic strep [GABHS] without associated tics or OCD). Antibrain antibodies were found in 14 of 22 patients in the PANDAS group but only in 2 of 22 patients in the GABHS group, suggesting that GABHS infection alone does not explain the presence of antibrain antibodies in PANDAS. Wendlandt and colleagues[4] from Baltimore, Maryland, and Mainz, Germany, examined the importance of autoantibody repertoires in the pathogenesis of Tourette syndrome using multivariate statistical comparison by discriminant analysis of activity against human striatum, muscle, and a neuroblastoma cell line using Western blot assay techniques. Serum antibodies from children with TS not preselected by history of GABHS (n = 20) and controls against human striatum, muscle, and HTB-10 cells were studied. The most prominent differences in mean canonical root scores between TS and controls were shown using human striatum as the antigen. Antibody activity against reference ranges at 75, 58, and 52 kd contributed most heavily to the striatal discrimination. These investigators suggest these data further support the hypothesis of a striatal autoimmune involvement in TS pathophysiology. Singer and associates[5] from Baltimore, performed a double-blind placebo-controlled study using baclofen for suppression of tics in children (n = 10) with TS. Standardized tic rating scales were measured for outcome with some improvement noted in 9of 9 children who completed the study. A large-scale study to verify this very small patient population study may be warranted. Tourette and Related Disorders: Key Points Detection and characterization of specific antineuronal antibodies are helping to formulate a cohesive hypothesis for the pathophysiology of Tourette syndrome, tics, and PANDAS. Baclofen may provide an off-label approach to treatment of tics associated with TS. Further study is warranted.

I was going to post this under the "tumor" thread, but it seems like a large enough topic for it's own. If anyone else is interested in posting here, this is a site where you can hunt down chromosomes and gene locatons. http://www.ncbi.nlm.nih.gov/sites/entrez?c...ood%20Disorders If you have a condition that runs in your family and you have wondered if it's related, just do a search with the word chromosome or gene in it, and see what comes up. I'll post the studies that I have saved, that mention TS and related conditions where they have identified different genes too. Here is a TS study linking chromosome 8 (I'll be adding more to this with an edit) http://www.springerlink.com/content/rwhvh6x0xgnra10e http://www.nanosphere.us/VerigeneMTHFRNucl...stIVD_4468.aspx The MTHFR gene, located on human chromosome 1p36.3, encodes an enzyme that catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate, the primary circulating form of folate. This substrate is vital for both DNA synthesis1 and the methionione synthase-catalyzed conversion of homocysteine to methionine. http://ghr.nlm.nih.gov/gene=f5 Where is the F5 gene located? Cytogenetic Location: 1q23 How are changes in the F5 gene related to health conditions? factor V Leiden thrombophilia - caused by mutations in the F5 gene A specific mutation in the F5 gene is responsible for factor V Leiden thrombophilia Recently Published Study (2008) (i have psoriasis or as I fondly refer to it; my dragon elbow) That 1q 24 is interesting inlight of the 1q23 involved in the V Leiden info we have from the other thread. The crohn's info for someone we all know and luv! I also have a friend on another site with TS and his Mom has crohn's. http://www.ihop-net.org/UniPub/iHOP/pm/127...p;pmid=17993580 Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease. The analysis of 1256 patients and 2938 unrelated controls found significant associations for loci mapping to chromosomes 1q24 (rs12035082, p = 0.009), 6p22 (rs6908425, p = 0.00015) and 21q22 (rs2836754, p = 0.0003). Notably, the marker showing the strongest phenotypic effect (rs6908425) maps to CDKAL1, a gene also associated with type 2 diabetes. CONCLUSIONS: These results substantiate emerging evidence for a pleiotropic role for s genes that contribute to the pathogenesis of immune-mediated disorders.

In that last post, I meant to say that there is too much talk about clotting to be a coincidence, it would seem. From the little I read, that isn't really a common condition either, although possibly more prevalent that what is thought? I have read that a MTHFR mutation is not all that uncommon, however. Guess i better see what i can find on antiphospholipid antibody syndrome. I'm assuming it, too, causes excessive clotting?

I missed this! Wanted to bring it forward, in case others did too. I didn't want anyone to miss tlk saying i was smart! LOL. Ok, there is way too much talk here about this clotting thing. I HAVE to add, that i had asked the ped allergist if the fish oil was thinning my oldest son's blood too much. I know vit e and fish oil can thin blood. Pycnogenol, which we have discussed in relationship to an immune booster, also has the ability to keep platelets from sticking together. I wasn't using that at the time, but thought I would mention it. The Dr. said that the amts my son was taking would not effect the thickness of his blood. He said, even if you used enough to thin it, it would not effect clotting time. At the time, he was having a lot of bloody noses. I chalked it up to allergy irritation, but why so hard to stop? He is not having them anywhere near as frequently now, but I still find these strange little splatters of blood on his comfortor/sheet/pillowcases. In reading about the MTHFR and antiphospholipid antibody, i get the impression that this isn't an area that a lot of Dr.s are educated in or at least there is some confusion. Hope you all will add anything else that you can think of.

Kelly, I can't understand it, without all of the comments and contributions that you guys provide. Even at that, I don't really have a prayer. The best I think we can hope for, is to come up with some mutual things to help us get a little closer to a problem origin, then take it to a Dr. who would be the most appropriate. Genetic testing would probably be really nice, but if that's not a realistic possibility, i think there are somethings that a reg Dr. could help with, if convinced there was something there. I know that I wanted to get back to something called the "nodes of ranvier" that I kicked up when looking at the EXT 1 mutation. The article I posted here, had a clear diagram showing that area. If it turned out to be anything useful, I wanted a way to explain it. Believe me, I'm just as "simple" as anyone else here.

MARYANN, I feel the same way, you need to keep an eye on something like that but if it is the same thing that my son has, the incidence of it turning into something threatening (osteosarcoma) is very low. If there is an increase in size, pain, etc. it should be checked out again. What actually interests me more (at this point)is what other implications that genetic mutation could have. My son has 3 things that are considered relatively rare, with tics probably being the most common! If there aren't some dots to be connected, I'd be a little surprised. I just wish there was someone who did this type of thing. I looked it up, and saw the word "Doctor" mentioned, but I tried a few of those, and apparently, that is not part of the job

I can't tell you how much I appreciate those of you who are contributing to this discussion! bmom, I wanted to post and say "take it back!" Your husband does too have a bony tumor, because I need it to be a bony tumor! For anyone who has a little spare time, lol, read thru this. Growth factor http://en.wikipedia.org/wiki/Growth_factor

I haven't even finished reading this page yet, but I wanted to post it before I lost it in my sea of note pads. It has those diagrams that I love. In the first couple of paragraphs, I found the info about the resting membrane potential interesting. I remember someone saying that their child got ticcy during reading time. If they rubbed their back, the ticcing would stop. That is something that I have seen with my youngest son. NO tics, sits down to watch TV and relax and gets ticcy. I think most of us attribute it to being tired or screen flicker but I think for my son, this is probably more of what's happening. Kids that don't tic at school, but start when they get home, could have something to do with this too. I think it's pretty well estabilished that many people don't tic when they are engrossed in something. I remember the neuro saying that the kids would probably tic less during summer vacation when stress levels were lower. I remember thinking he was totally wrong. I felt they were ticcier (is that a word?). I'm talking those little twitches. With the big flairs, something else is going on. Since I have been looking at these adhesion cells, the sodium and potassium channeling keep comming up. Usually, I see the calcium influx into the neurons being discussed in relationship to how neurons function so this article is nice to see. http://people.eku.edu/ritchisong/RITCHISO//301notes2.htm

I thought I would put this on a separate thread although I believe it's related to what we're discussing on the bony tumor thread. and As these things become better known, I hope it helps to reduce confusion about why some respond to certain supplements or dietary changes, while others might not. http://www.sciam.com/article.cfm?id=D7C80F...8C4F&page=1 Isn't this interesting????? http://www.sickkids.ca/mediaroom/custom/dna_sequence.asp www.chr7.org TORONTO - Scientists at The Hospital for Sick Children (HSC) have compiled the complete DNA sequence of human chromosome 7 and decoded nearly all of the genes on this medically important portion of the human genome. The research, which involved an international collaboration of 90 scientists from 10 countries, publishes in the online version of the scientific journal Science on April 10, 2003. Two years ago, a draft (or fragmented) human genome DNA sequence was published by the public Human Genome Project, and separately by Celera Genomics. To coincide with celebrations of the 50th anniversary of the discovery of the structure of DNA, the DNA sequencing phase of the Human Genome Project will be declared completed in April. "In a massive study, we combined all information in public and private databases, including data generated by Celera Genomics, as well 15 years of our data and analyses to generate what we believe is the most comprehensive description of any human chromosome. Chromosome 7 is often referred to as 'Canada's chromosome' because of this country's major contribution to the mapping and identification of many important disease genes on that chromosome over many years," said the study's lead author Dr. Stephen Scherer, a senior scientist at The Hospital for Sick Children and an associate professor in the Department of Molecular and Medical Genetics at the University of Toronto (U of T). .

Thanks DKRE! I so envy parents who can pull off a concise post. I have to ask 'why" to every bit of info that I find, and I end up trying to unravel the world. bmom Do either of these things sound familiar in regards to you/your sister? Factor V Leiden and MTHFR (Faith...I'm thinking of you) antiphospholipid antibody syndrome

bmom, Please don't be nervous. I have not found anything here, so far, that suggests that our children or family members are more at risk for any serious disease if they do turn out to have these mutations. I guess maybe there could be a higher risk...but it would take the involvement of other genes or enviromental factors to change these things from a rather benign nature to something more serious. Please remember that this is simply my interpretation, and saying I'm understanding these concepts would be a gross overstatement. I am only posting things for discussion and in the hopes that others will lend their thoughts. I don't want to be viewed as any authority here. I think i'm on to something, then I'm really glad that I didn't post it, because I was totally misunderstanding it. I have burned through subjects that would probably takes months/years of studying to truly have any real understanding of! This is a quote from the link above and is clickable on the nervous tissue In humans, epithelium is classified as a primary body tissue, the other ones being connective tissue, muscle tissue and nervous tissue. http://en.wikipedia.org/wiki/Nervous_tissue This is one of the most helpful sites I found regarding Heperan Sulphate http://www.nature.com/nature/journal/v446/...ature05817.html Heparan sulphate proteoglycans reside on the plasma membrane of all animal cells studied so far and are a major component of extracellular matrices. Studies of model organisms and human diseases have demonstrated their importance in development and normal physiology. A recurrent theme is the electrostatic interaction of the heparan sulphate chains with protein ligands, which affects metabolism, transport, information transfer, support and regulation in all organ systems. The importance of these interactions is exemplified by phenotypic studies of mice and humans bearing mutations in the core proteins or the biosynthetic enzymes responsible for assembling the heparan sulphate chains. This diagram from figure two in above article was cool. The extracellular matrix is the "floor" that you would see outside of the cell if you were looking down a microscope. This was nice to find as I had no idea http://www.sciencedirect.com/science?_ob=A...4cd21dd7d65b2b1

I'm so hot and heavy into my research on the skin/osteochondroma stuff that I didn't even take time to rant about this yesterday! I literally cried watching those parents and...... remembering. The ear infections, the vax reactions that were never reported to VAERS, the loss of ability to sleep, my youngest eradicating foods...those first tics. I didn't get to watch Larry King last night, but I did see the interview with the parents on CNN yesterday. From what I hear, the tone had changed dramatically from the initial interview. I'm thinking someone made some real waves about what they could say and not say? Here is the initial interview. It was "da bomb" as my youngest would say! http://adventuresinautism.blogspot.com/200...ive-on-cnn.html This page has several articles on the story. I haven't had a chance to read them yet. http://www.vaccinationnews.com/Opening.htm

edit

Jasminsky, Were the little red spots itchy? What happened to the spots when you stopped amox? Can you look up the word petachias (not sure i spelled that right, but it should be close) and see if that sounds like what your daughter had? I can't explain why I'm asking, but it is one of those nagging things that sticks in my mind from a previous poster here. I hope parents with PANDAS kids or even ticcy kids without clear PANDAS symptoms will keep an eye out for that.

Jewels, I'm wondering if your daughter had the individual measles vaccine or the combo MMR or even the newer MMR+varicella vaccine? Did she have any other illness shortly before or after the vaccine, that you remember? Even stomach bug, sore throat, cold, or had she taken antibiotics for anything prior to that vaccine, say within 1 month? Had she had all of the regularly recommended vaccines before the one that appeared to trigger the symptoms? Since it sounds like you have had quite a bit of testing and physician guidance, I'm wondering if your daughters vit/mineral levels have been tested? The measles vaccine is a live viral vax and vit A can play a role in recovery from naturally occuring mealsles or if there was a deficiency prior to the vaccine, I suspect there may be issues with reactions to that vax. Has your Dr. discussed anything like that with you? In addition to Cheri's comments, it seems the prevailing thought is exactly what she posted, but I have also read in a few places about the candida may actually be playing some sort of protective role. I have nothing to link to that would give any good reason or explanation for that, but thought I would mention it, as part of me thinks it makes a bit of sense. If it were my child, I would ask the Dr. if we could go very slowly with the yeast treatment, try make sure that the probiotics aren't part of the problem. Another explanation may be that since the body seems to compensate for lack of neurotransmitters in various ways (one of them possibly being the formation of extra receptors) as the body starts to become more balanced, and produces closer to the normal amts of required substances, these "extra receptors" may be part of the problem that causes the an increase in symptoms. Also, I know some very educated parents on an autism forum discuss using activated charcoal for die off, and I believe alka seltzer gold is supposed to be helpful. Are you a memeber of any of the autism bds? If you would like, I would be happy to give you a link to one that has some really great resources in their files section along with some wonderful parents that could probably be helpful to you.

Calicat, I'm so sorry that you are dealing with the scare that any type of a lump brings until it's fully investigated. Please keep us updated and know hugs and prayers are with you!

Michelle, Have you tried dropping the 5HTP? I posted somewhere, where my husband said he thought I had given him speed, when I gave him 5htp. He had to be up all nite, and was trying to sleep during the day. I told him it would probably make him sleepy. WRONG. I would either drop it for a while or test it, as in giving it away from all other supplements and see if you can see any difference. My oldest son wouldn't even take a 1/4 of a capsule when he didn't want to feel tired, but Andrew probably isn't quite old enough to give you that info? You could also try tryptophan instead of the 5 htp. Apparently, tryptophan will only convert to the amt of 5htp that your body can use. One article that I read said when you give 5htp you are forcing it on the body, where tryptophan will only covert into an amt that the body will benefit from.

Sunshine & tlkinster I'm wondering if either of you could tell me if your kids have any birthmarks or unusual skin discoloration/ moles? bmom, I think you said it was your husband with the benign bony tumor? Does he have any of these things (that he wouldn't mind you sharing)? I've been diligently searching for a new way to go I think I found it! http://en.wikipedia.org/wiki/CNTNAP2 Contactin associated protein-like 2, also known as CNTNAP2, is a human gene.[1] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[1] CNTNAP2 has recently been associated with autism spectrum disorder.[2][3][4 Cntnap2 is disrupted in a family with gilles de la tourette syndrome and obsessive compulsive disorder 1 Annemieke J. M. H. Verkerka, Carol A. Mathewsb, Marijke Joossea, Bert H. J. Eussena, Peter Heutinka, Ben A. Oostra, and the Tourette Syndrome Association International Consortium for Geneticsa a Department of Clinical Genetics, Erasmus MC, P.O. Box 1738, 3000 DR, Rotterdam, The Netherlands b Neuropsychiatric Genetics Group, Department of Psychiatry, University of California at San Diego, La Jolla, CA 92093-0810, USA Received 19 September 2002; accepted 26 March 2003. ; Available online 13 May 2003. http://www.sciencedirect.com/science?_ob=A...bf10952d5ad506c Abstract Gilles de la Tourette syndrome (GTS) is a sporadic or inherited complex neuropsychiatric disorder characterized by involuntary motor and vocal tics. There is comorbidity with disorders like obsessive compulsive disorder and attention deficit hyperactivity disorder. Until now linkage analysis has pointed to a number of chromosomal locations, but has failed to identify a clear candidate gene(s). We have investigated a GTS family with a complex chromosomal insertion/translocation involving chromosomes 2 and 7. The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35–q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35–q36;p21p23) and 46,XY,der(7)ins(7;2)(q35–q36;p213p23)] share a chromosome 2p21–p23 insertion on chromosome 7q35–q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). This gene encodes a membrane protein located in a specific compartment at the nodes of Ranvier of axons. We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K+ channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.