Giving Tuesday 2023 Appeal
0:40
11 ай бұрын
Concluding remarks
7:53
Жыл бұрын
Keynote Speech, Leah Schust Myers
26:35
Welcome to Day 2
26:19
Жыл бұрын
2022 Update on the Foundation
15:09
CACNA1A Awareness Day 2023 Clip 2
0:45
CACNA1A Awareness Day 2023 Clip 1
0:43
Пікірлер
@CaiforniaVideo
@CaiforniaVideo Ай бұрын
Great cause!! Thank you @minnesotatwins for the donation
@Gayleen-xc6pu
@Gayleen-xc6pu 4 ай бұрын
This is awesome, we are. In newzealand and no one really knows much about this, my grandson has this
@ashleyjustice8288
@ashleyjustice8288 Жыл бұрын
'promo sm' 🤤
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@ТатьянаЕвстафьева-п9й
@ТатьянаЕвстафьева-п9й Жыл бұрын
Hello, tell me, please. Could a CACNA1A mutation inherited from a healthy mother be the cause of a son's autism? He has no ataxia, no nystagmus, no epiprimes. There is activity on the EEG. There are conditions similar to migraines (cinnarizine helps). The opinions of geneticists differed.
@meganquigley5861
@meganquigley5861 Жыл бұрын
This is so awesome. The CACNA1a Foundation has accomplished so much in such a short time!
@МихаилЕвстафьев-ю1н
@МихаилЕвстафьев-ю1н Жыл бұрын
Hello. My son has CACNA1A. Inherited from her mother. The child has autism. There is an acute wave of epileptiform activity on the encephalogram. There were no epiprimes. For the last year he has been complaining of pain in his eyes (he rubs them and says "the eyebrows hurt"). A couple of times there was vomiting on this background. The symptoms (ocular) went away on cinnarizine. Is it possible in the case of my son to explain his autism by the presence of this mutation? Or can only non-inherited (de novo) forms be pathogenic?? And in our case, is it just a healthy carrier and our condition is not related to CACNA1A? The opinions of our geneticists have diverged. Thank you very much to the one who will answer!
@МихаилЕвстафьев-ю1н
@МихаилЕвстафьев-ю1н Жыл бұрын
Hello. My son has CACNA1A. Inherited from her mother. The child has autism. There is an acute wave of epileptiform activity on the encephalogram. There were no epiprimes. For the last year he has been complaining of pain in his eyes (he rubs them and says "the eyebrows hurt"). A couple of times there was vomiting on this background. The symptoms (ocular) went away on cinnarizine. Is it possible in the case of my son to explain his autism by the presence of this mutation? Or can only non-inherited (de novo) forms be pathogenic?? And in our case, is it just a healthy carrier and our condition is not related to CACNA1A? The opinions of our geneticists have diverged. Thank you very much to the one who will answer!
@МихаилЕвстафьев-ю1н
@МихаилЕвстафьев-ю1н Жыл бұрын
Hello. My son has CACNA1A. Inherited from her mother. The child has autism. There is an acute wave of epileptiform activity on the encephalogram. There were no epiprimes. For the last year he has been complaining of pain in his eyes (he rubs them and says "the eyebrows hurt"). A couple of times there was vomiting on this background. The symptoms (ocular) went away on cinnarizine. Is it possible in the case of my son to explain his autism by the presence of this mutation? Or can only non-inherited (de novo) forms be pathogenic?? And in our case, is it just a healthy carrier and our condition is not related to CACNA1A? The opinions of our geneticists have diverged. Thank you very much to the one who will answer!
@shannatolbert2061
@shannatolbert2061 Жыл бұрын
So informative! Great work!
@miguelchambers7755
@miguelchambers7755 Жыл бұрын
ρɾσɱσʂɱ
@shannatolbert2061
@shannatolbert2061 Жыл бұрын
Thank you for sharing, Pangkong!
@smlrealchanne
@smlrealchanne 2 жыл бұрын
Thank you so much for this! Lots of info to share with my sons neurologist tomorrow. Hoping to get a better preventative plan in place.
@CACNA1AFoundation
@CACNA1AFoundation Жыл бұрын
Please reach out if you have any questions - [email protected]
@CureSYNGAP1
@CureSYNGAP1 2 жыл бұрын
Great work CACNA1A!
@oncearosestudios
@oncearosestudios 2 жыл бұрын
New CACNA1A Mama here :) Well, I guess not new. My son is 16. But he is newly diagnosed. I have signed up for all the things, and did the surveys, and signed up for the natural history study :) I appreciate having a new direction to go for answers gives me a lot of hope!
@tomorrowkiddo
@tomorrowkiddo 3 жыл бұрын
I have FHM. Thank you for this.
@CACNA1AFoundation
@CACNA1AFoundation 3 жыл бұрын
We're glad you found it helpful. We will continue to develop more educational content.