Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function

Myriam Essid; Sabrin Haddad; J Fraize; O. Jallouli; JR Alvi; S Bakhtiari; M Ben Hafsa; H Benrhouma; W Bouchaala; R Burger; E Cai; P Chand; N Chatron; H Darvish; S Efthymiou; CI Galaz Montoya; S Haider; H Houlden; M Jelani; H Khan; I Kraoua; MC Kuer; R Maroofian; E Riesch; D Sanlaville; AS Schoonjans; GH Seo; H Stamberger; T Sultan; C Triki; D Ville; B Vona; Q Zaman; S Zuchner; Clarissa Eibl; S Cabet; Gerald Obermair; Gaetan Lesca

Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function

Myriam Essid (Presenter)
, Sabrin Haddad
, J Fraize
, O. Jallouli
, JR Alvi
, S Bakhtiari
, M Ben Hafsa
, H Benrhouma
, W Bouchaala
, R Burger
, E Cai
, P Chand
, N Chatron
, H Darvish
, S Efthymiou
, CI Galaz Montoya
, S Haider
, H Houlden
, M Jelani
, H Khan

I Kraoua, MC Kuer, R Maroofian, E Riesch, D Sanlaville, AS Schoonjans, GH Seo, H Stamberger, T Sultan, C Triki, D Ville, B Vona, Q Zaman, S Zuchner, Clarissa Eibl, S Cabet, Gerald Obermair, Gaetan Lesca^*

^*Corresponding author for this work

Research output: Contribution to conference › Poster at a conference

Original language	English
Publication status	Published - 24 May 2025
Event	European Human Genetics Conference 2025 - Milan, Milan, Italy Duration: 24 May 2025 → 27 May 2025

Conference

Conference	European Human Genetics Conference 2025
Country/Territory	Italy
City	Milan
Period	24.05.2025 → 27.05.2025

Cite this

Essid, M. (Ed.), Haddad, S., Fraize, J., Jallouli, O., Alvi, JR., Bakhtiari, S., Ben Hafsa, M., Benrhouma, H., Bouchaala, W., Burger, R., Cai, E., Chand, P., Chatron, N., Darvish, H., Efthymiou, S., Galaz Montoya, CI., Haider, S., Houlden, H., Jelani, M., ... Lesca, G. (2025). Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function. Poster session presented at European Human Genetics Conference 2025, Milan, Italy.

@conference{0adb06354e9d4cb4aaa6ab130f12306e,

title = "Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function",

author = "Myriam Essid and Sabrin Haddad and J Fraize and O. Jallouli and JR Alvi and S Bakhtiari and \{Ben Hafsa\}, M and H Benrhouma and W Bouchaala and R Burger and E Cai and P Chand and N Chatron and H Darvish and S Efthymiou and \{Galaz Montoya\}, CI and S Haider and H Houlden and M Jelani and H Khan and I Kraoua and MC Kuer and R Maroofian and E Riesch and D Sanlaville and AS Schoonjans and GH Seo and H Stamberger and T Sultan and C Triki and D Ville and B Vona and Q Zaman and S Zuchner and Clarissa Eibl and S Cabet and Gerald Obermair and Gaetan Lesca",

year = "2025",

month = may,

day = "24",

language = "English",

note = "European Human Genetics Conference 2025 ; Conference date: 24-05-2025 Through 27-05-2025",

}

Essid, M (ed.), Haddad, S, Fraize, J, Jallouli, O, Alvi, JR, Bakhtiari, S, Ben Hafsa, M, Benrhouma, H, Bouchaala, W, Burger, R, Cai, E, Chand, P, Chatron, N, Darvish, H, Efthymiou, S, Galaz Montoya, CI, Haider, S, Houlden, H, Jelani, M, Khan, H, Kraoua, I, Kuer, MC, Maroofian, R, Riesch, E, Sanlaville, D, Schoonjans, AS, Seo, GH, Stamberger, H, Sultan, T, Triki, C, Ville, D, Vona, B, Zaman, Q, Zuchner, S, Eibl, C, Cabet, S, Obermair, G & Lesca, G 2025, 'Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function', European Human Genetics Conference 2025, Milan, Italy, 24.05.2025 - 27.05.2025.

TY - CONF

T1 - Involvement of CACNA2D2 in developmental and epileptic encephalopathy through disruption of calcium channel functionality and synaptic function

AU - Haddad, Sabrin

AU - Fraize, J

AU - Jallouli, O.

AU - Alvi, JR

AU - Bakhtiari, S

AU - Ben Hafsa, M

AU - Benrhouma, H

AU - Bouchaala, W

AU - Burger, R

AU - Cai, E

AU - Chand, P

AU - Chatron, N

AU - Darvish, H

AU - Efthymiou, S

AU - Galaz Montoya, CI

AU - Haider, S

AU - Houlden, H

AU - Jelani, M

AU - Khan, H

AU - Kraoua, I

AU - Kuer, MC

AU - Maroofian, R

AU - Riesch, E

AU - Sanlaville, D

AU - Schoonjans, AS

AU - Seo, GH

AU - Stamberger, H

AU - Sultan, T

AU - Triki, C

AU - Ville, D

AU - Vona, B

AU - Zaman, Q

AU - Zuchner, S

AU - Eibl, Clarissa

AU - Cabet, S

AU - Obermair, Gerald

AU - Lesca, Gaetan

A2 - Essid, Myriam

PY - 2025/5/24

Y1 - 2025/5/24

M3 - Poster at a conference

T2 - European Human Genetics Conference 2025

Y2 - 24 May 2025 through 27 May 2025

ER -