The Complexities of Paediatric Epileptology! - Eleni Panagiotakaki, Centre Hospitalier Universitaire de Lyon, France
Paediatric neurologist Eleni Panagiotakaki discusses her work in paediatric epileptology, focusing on rare epilepsies such as Alternating Hemiplegia of Childhood (AHC) and GRIN disorders. She highlights the challenges in diagnosing and treating these diseases, the variability of symptoms, and the importance of a holistic approach to care. Eleni also emphasises the role of parents in driving research and improving understanding of these rare epilepsies.
Reported by Torie Robinson | Edited and produced by Carrot Cruncher Media.
Podcast
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00:00 Eleni Panagiotakaki
“There is some of them that have almost normal development - but it's the exception.”
00:08 Torie Robinson
Fellow homo sapiens! My name is Torie Robinson, and, welcome to, or welcome back to: Epilepsy Sparks Insights.
Now, who has heard of Alternating Hemiplegia of Childhood? It is one of the rarest, most confusing, devastating genetic diseases - where epilepsy is one of the symptoms.Today we hear from Eleni Panagiotakaki who shares with us the complexities of AHC epilepsy, plus the positive influence and motivation that parents can provide when it comes to researching certain epilepsies - like AHC!
00:42 Eleni Panagiotakaki
So, I'm a paediatric neurologist and specialised in paediatric epileptology. Right now, I'm working in Lyon in France and… I'm doing paediatric epileptology and EEG. I'm also reading EEGs.
00:53 Torie Robinson
Mmm-hmm.
00:53 Eleni Panagiotakaki
…I'm doing paediatric epileptology and EEG. I'm also reading EEGs.
01:00 Torie Robinson
We've got a couple of topics today, because I know that you've got a passion for rare epilepsies…
01:05 Eleni Panagiotakaki (01:11.701)
Yes!
01:06 Torie Robinson
…for instance: AHC (which has got a really long real name!), and the GRIN diseases, which often have epilepsy as a symptom. Could you tell us about your work in these, please? And by work, I mean, your work with individuals, families, colleagues, but also the research that you do into them, please?
01:25 Eleni Panagiotakaki
AHC is Alternating Hemiplegia of Childhood but it's alternating hemiplegia of not only childhood because you can have it and be an adult and be…
01:39 Torie Robinson
Mmm.
01:39 Eleni Panagiotakaki
…and be even 60 years old. Now we have patients that are really “old” ...
01:46 Torie Robinson
Who are “older”!
01:48 Eleni Panagiotakaki
I’m sorry, yes! And it’s a strange disorder, it's very rare. Initially, was thought that the prevalence was one in 1 in a million people, but we think now that it's much more frequent, one in 100,000. But even with this, it's really very, very rare. And, the children (because it starts when you are very young…
02:17 Torie Robinson
Mm.
02:17 Eleni Panagiotakaki
…below 18 months; the children and then the patients that have it: they have episodes during which they get paralysed on one or the other side of the body for some time (it could be some minutes, some hours, sometimes many days!), and then this goes off and then they have it on the other side of the body. And it's really a disorder that… this cannot be prevented. Sometimes. You can have some triggers: you can have the episodes when you are more tired or when you are exposed in bright lights, in water, in cold/hot weather. But you never know when next episode will start, so it's really, very annoying.
03:16 Torie Robinson
And by episodes, do you mean seizures? Or what do you mean?
03:19 Eleni Panagiotakaki
The patients can have lots of different episodes. They can have hemiplegic episodes…
03:25 Torie Robinson
Mm-hmm.
03:26 Eleni Panagiotakaki
They can have dystonic episodes (episodes of rigidity, likewise, either on one or the other part of the body). They can have episodes of autonomic dysfunction - that is to say, they can have palpitations or bradycardia, or the pupils of the eyes that go, sweating, breathing difficulties by episodes. And they can have epilepsy: about half of them at one time during their lifetime will have epilepsy also.
04:05 Torie Robinson
And this is interesting, I think, and an interesting example, because many of what we call the rare epilepsies; epilepsy is just one of the symptoms often of the disease, right? And it can vary hugely, can't it? The severity of the epilepsy, just like with the other symptoms, and just like people who don't have a rare epilepsy; our seizures can vary in severity and frequency and stuff like that. So, it's quite like that, I think, with, for instance, AHC in different people, the symptoms vary a great deal.
04:35 Eleni Panagiotakaki
Yes, that's exactly that because you can have patients that the epilepsy is very predominant and starts very early on in life and so since the age that they were babies they begin with a lot of seizures and this is the predominant symptom. You can have other children or adults that have mostly the episodes and very rare seizures and so it's very variable.
05:11 Torie Robinson
It sounds like a very confusing disease to clinicians as well as the individuals with it. And I've heard that the understanding of it is just increasing all the time (although not enough!) but just because very little is understood about it, relatively speaking, compared to other diseases.
05:28 Eleni Panagiotakaki
It is difficult to diagnose because most of the time, when parents say “Ah, I think it's paralysed” [or] thet [(clinicians)] don't believe the parents, or they think that maybe it's seizures and then you have post-ictal paralysis. So, really, it's difficult to diagnose. It's very rare. So, there's a lot of doctors that don't know [of] the disorder. It's normal. I mean, all doctors, we don't know all the disorders that exist
06:02 Torie Robinson
Oh right, yeah, so… of course!
06:05 Eleni Panagiotakaki
Or, we have heard, you know; if you have heard once in your lifetime or read in a book, you don't really know how to diagnose it. So, it is confusing and difficult to diagnose. Also how to treat it - because you should treat the hemiplegic, hematistonic, etc. episodes., plus or minus the epilepsy. And between episodes, most of the time, children have a developmental disorder. There is some of them that have almost normal development - but it's the exception. Most of them they can have different severities of...
06:54 Torie Robinson
Intellectual disability and…
06:55 Eleni Panagiotakaki
Yes, yes…
06:56 Torie Robinson
…cognitive function.
06:57 Eleni Panagiotakaki
Yes.
06:57 Torie Robinson
Yeah. Yeah. It makes me think a bit sometimes of how people with cerebral palsy are much more likely to have epilepsy. But people often don't realise that people that… so many, I mean, I've read it's about 50% - I could be wrong, but about 50% of people with cerebral palsy have epilepsy, but you only ever hear about cerebral palsy and…even though the epilepsy could be more impactful than the cerebral palsy (or, you know, it could be vice versa). And I guess it could be a bit like that with this disease as well, given that there are so many symptoms that they could have. Which one do you talk about the most and which is priority in a doctor's appointment? And it must be hard, I imagine, to look at quality of life as well as trying to manage symptoms at the same time. Is that a challenge?
07:44 Eleni Panagiotakaki
It is a challenge. Lately we found out that they can have also heart problems (so, arrhythmias). So, for us paediatricians (because I started as a paediatrician), for us, in the appointments, we are trying to see the patient as a whole and take care of almost everything. There is a problem when we switch from paediatricians to adult neurologists, but because an adult neurologist is a neurologist, he's not also gastroenterologist or cardiologist or, you know, all the others. And then there is a problem, there are very few countries where now they are trying to have a specialty of doctors that take care in a holistic manner of patients with these Developmental and Epileptic Encephalopathies. It's a real problem, especially in adult life, yes.
08:51 Torie Robinson
Um, I mean, I can think about what a challenge it is for those of us who don't have those additional visits, have or have problems, you know, verbally communicating what you feel. But if you often struggle to do that and you've got all this extra stuff, even giving the information required to your clinician is really difficult, right? Let alone interpreting it.
How would you say, so, because you've been studying GRIN as well, so multiple GRIN disorders (G-R-I-N, for people who aren't familiar); there are different GRIN genes, and a lot of these people with these mutations will have an epilepsy as well, is that correct?
09:59 Eleni Panagiotakaki
Mm-hmm. So, this is much more, Alternating Hemiplegia is being (has been) a subject of study and preoccupation for me [for] 20 years now. this was helpful because finally we found out that it is a genetic disorder. It is.. in 2012 we found out that It is mainly caused by a mutation in one gene (in 80% of patients) - the gene is ATP1A3. And there are some other genes in the remaining 20%. And it is a disorder where you have epilepsy plus/minus other things. From there, I became interested in other genetic disorders, genetic epileptic encephalopathies that now we are capable of diagnosing with advances in genetics. I said “Ah, this [person] also can have epilepsy plus this, this, this!”. You know, Alternating Hemiplegia was a very beautiful prototype for how to approach other kinds of disorders. I'm looking after people with a lot of rare genetic epilepsies, not only…
10:49 Torie Robinson
Everything, right?! SCN2A, SCN8A…
10:54 Eleni Panagiotakaki
Exactly. And recently we have been contacted by an association of parents that asked us to do something in Lyon with GRIN genes. So, we were pushed by parents!
11:12 Torie Robinson
Ahh! Well, the pushing does work sometimes, yeah?!
11:15 Eleni Panagiotakaki
Yes, yes, yes, I mean, in Alternating Hemiplegia it was the same thing because when I was in Paris, I was - between 2004 and 2008 - in Paris working in Robert Debré Hospital with Alexis Arzimanoglou and it was the same thing: there was a mother of a child with Alternating Hemiplegia of Childhood that managed to have a European funding, she wrote a protocol (she had a scientific background but she wrote a protocol), and she managed to have a big European funding. And then she approached many different teams in all around Europe and made us work together! Really, I don't think that we felt…without the moto[vation] of the parents, we would have done all those things. It's really, truly great. Thank you parents!
12:20 Torie Robinson
Thank you so much to Eleni for giving us a snippet into the complexities of the rare epilepsy AHC, the crucial part that parents can play in influencing epilepsy research, a little bit about GRIN disorders, and pointing out how rare epilepsies do affect adults as well - and we mustn’t forget about them!
If you haven’t seen/listened to it already, check out our chat about the AHC with Alexis Arzimanoglou and Rosaria Vavassori, right here!
Find out more about Eleni and her work on the website torierobinson.com (where you can also access the podcast, the video, and the transcription of this episode), and if you haven’t already, don’t forget to like, comment, and subscribe to the channel, share this episode with your friends/colleagues/family members(!) and see you next week!
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Eleni Panagiotakaki is a Senior Pediatric Neurologist – Epileptologist and the Deputy Director of the Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children at the University Hospitals of Lyon (HCL), France.
Eleni received her MD degree from the University of Patras, Greece and her PhD in "Correlation of the genotype in Wilson’s disease with the clinical and biochemical phenotype" from the Athens Medical School, where she also completed her pediatric training. From 2004-2008, she worked as a Paediatric Neurologist at Robert Debré Hospital, in Paris. She was among the main partners of the ENRAH (European Network for Research on Alternating Hemiplegia, 2005-2011), and nEUroped projects (European Network of Rare Paediatric Neurological Diseases) financed respectively by the 6th and 7th Framework European programs. She is one of the founding members of the International Consortium for Research on Alternating Hemiplegia of Childhood (www.iahcrc.net) created in 2014, and leader of the phenotyping projects.
Eleni was elected Deputy Coordinator of the International Consortium for the Research on Alternating Hemiplegia of Childhood and other ATP1A3 related diseases (IAHCRC) for the years 2022-2024.
As principal investigator in HCL in studies concerning alternating hemiplegia of childhood and genetic diseases with epilepsy and movement disorders, she is particularly interested in the genetic epilepsies and their multiple clinical expressions.
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