The wide spectrum of tubulinopathies: what are the key features for the diagnosis? von BAHI-BUISSON, Nadia, POIRIER, Karine, LASCELLES, Karine, SOUVILLE, Isabelle, BELDJORD, Cherif, CHELLY, Jamel, FOURNIOL, Franck, SAILLOUR, Yoann, VALENCE, Stéphanie, LEBRUN, Nicolas, HULLY, Marie, BIANCO, Catherine Fallet, BODDAERT, Nathalie, ELIE, Caroline

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes von Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima

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Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders von Duval, Romain, Nicolas, Gaël, Willemetz, Alexandra, Murakami, Yoshiko, Mikdar, Mahmoud, Vrignaud, Cedric, Megahed, Hisham, Cartron, Jean-Pierre, Masson, Cecile, Wehbi, Samer, Koehl, Bérengere, Hully, Marie, Siquier, Karine, Chemlay, Nicole, Rotig, Agnes, Lyonnet, Stanislas, Colin, Yves, Barcia, Giulia, Cantagrel, Vincent, Le Van Kim, Caroline, Hermine, Olivier, Kinoshita, Taroh, Peyrard, Thierry, Azouzi, Slim

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Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy von Cafournet, Cérane, Zanin, Sofia, Guimier, Anne, Hully, Marie, Assouline, Zahra, Barcia, Giulia, de Lonlay, Pascale, Steffann, Julie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Ruzzenente, Benedetta, Metodiev, Metodi D

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Arterial spin labeling shows pre-epileptic tuber hyperperfusion in tuberous sclerosis complex von Hully, Marie, Grevent, David, Breuillard, Delphine, Brunelle, Francis, Chemaly, Nicole, Calmon, Raphael, Boddaert, Nathalie, Nabbout, Rima

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From splitting GLUT1 deficiency syndromes to overlapping phenotypes von Hully, Marie, Vuillaumier-Barrot, Sandrine, Le Bizec, Christiane, Boddaert, Nathalie, Kaminska, Anna, Lascelles, Karine, de Lonlay, Pascale, Cances, Claude, des Portes, Vincent, Roubertie, Agathe, Doummar, Diane, LeBihannic, Anne, Degos, Bertrand, de Saint Martin, Anne, Flori, Elisabeth, Pedespan, Jean Michel, Goldenberg, Alice, Vanhulle, Catherine, Bekri, Soumeya, Roubergue, Anne, Heron, Bénédicte, Cournelle, Marie-Anne, Kuster, Alice, Chenouard, Alexis, Loiseau, Marie-Noelle, Valayannopoulos, Vassili, Chemaly, Nicole, Gitiaux, Cyril, Seta, Nathalie, Bahi-Buisson, Nadia

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Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment von GITIAUX, CYRIL, KOSSOROTOFF, MANOELLE, BERGOUNIOUX, JEAN, ADJADJ, ELIAS, LESAGE, FABRICE, BODDAERT, NATHALIE, HULLY, MARIE, BRUGEL, DOMINIQUE, DESGUERRE, ISABELLE, BADER‐MEUNIER, BRIGITTE

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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports von Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

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N°37 – Periodic EEG discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling MRI von Eisermann, Monika, Fillon, Ludovic, Saitovitch, Ana, Boisgontier, Jennifer, Blauwblomme, Thomas, Hully, Marie, Bourgeois, Marie, Nabbout, Rima, Boddaert, Nathalie, Kaminska, Anna

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A von Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I, Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P, Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A, Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A, McMillan, Hugh J, Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J

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JAK Inhibition in the Aicardi–Goutières Syndrome von Neven, Bénédicte, Al Adba, Buthaina, Hully, Marie, Desguerre, Isabelle, Pressiat, Claire, Boddaert, Natalie, Duffy, Darragh, Rice, Gillian I, Seabra, Luis, Frémond, Marie-Louise, Blanche, Stéphane, Crow, Yanick J, Adang, Laura, Goldbach-Mansky, Raphaela, Vanderver, Adeline

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Motor neuropathy contributes to crouching in patients with Dravet syndrome von Gitiaux, Cyril, Chemaly, Nicole, Quijano-Roy, Susana, Barnerias, Christine, Desguerre, Isabelle, Hully, Marie, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

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Specific clinical and radiological characteristics of anti-NMDA receptor autoimmune encephalitis following herpes encephalitis von Dumez, Pauline, Villagrán-García, Macarena, Bani-Sadr, Alexandre, Benaiteau, Marie, Peter, Elise, Farina, Antonio, Picard, Géraldine, Rogemond, Véronique, Ruitton-Allinieu, Marie-Camille, Cotton, François, Aubart, Mélodie, Hully, Marie, Antoine, Jean-Christophe, Joubert, Bastien, Honnorat, Jérôme

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Patients with Dravet Syndrome in the Era of Stiripentol: A French Cohort Cross-Sectional Study von De Liso, Paola, Chemaly, Nicole, Laschet, Jacques, Barnerias, Christine, Hully, Marie, Leunen, Dorothée, Desguerre, Isabelle, Chiron, Catherine, Dulac, Olivier, Nabbout, Rima

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Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal von Barcia, Giulia, Scorrano, Giovanna, Rio, Marlène, Gitiaux, Cyril, Hully, Marie, Poirier, Karine, Besmond, Claude, Munnich, Arnold, Boddaert, Nathalie, Chemaly, Nicole, Nabbout, Rima

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Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy von Roux, Charles-Joris, Dufeu-Berat, Claire-Marine, Hully, Marie, Rotig, Agnes, Schiff, Manuel, De Lonlay, Pascale, Aubart, Mélodie, Alison, Marianne, Jaroussie, Marianne, Levy, Raphaël, Dangouloff-Ros, Volodia, Barcia, Giulia, Desguerre, Isabelle, Munnich, Arnold, Gitiaux, Cyril, Boddaert, Nathalie

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Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children von Aubart, Melodie, Roux, Charles-Joris, Durrleman, Chloé, Gins, Clarisse, Hully, Marie, Kossorotoff, Manoelle, Gitiaux, Cyril, Levy, Raphaël, Moulin, Florence, Debray, Agathe, Belhadjer, Zahra, Georget, Emilie, Kom, Temi, Blanc, Philippe, Wehbi, Samer, Mazeghrane, Mustapha, Tencer, Jeremie, Gajdos, Vincent, Rouget, Sebastien, De Pontual, Loic, Basmaci, Romain, Yacouben, Karima, Angoulvant, Francois, Leruez-Ville, Marianne, Sterlin, Delphine, Rozenberg, Flore, Robert, Matthieu P., Zhang, Shen-Ying, Boddaert, Nathalie, Desguerre, Isabelle

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Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1? von Ropars, Juliette, Barnerias, Christine, Hully, Marie, Chabalier, Delphine, Peudenier, Sylviane, Barzic, Audrey, Cros, Pierrick, Desguerre, Isabelle

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New insights into genotype―phenotype correlations for the doublecortin-related lissencephaly spectrum von BAHI-BUISSON, Nadia, SOUVILLE, Isabelle, LOUIS LEGER, Pierre, ELIE, Caroline, BODDAERT, Nathalie, BELDJORD, Cherif, CHELLY, Jamel, FRANCIS, Fiona, EUROPEAN CONSORTIUM, Sbh-Lis, FOURNIOL, Franck J, TOUSSAINT, Aurelie, MOORES, Carolyn A, HOUDUSSE, Anne, YVES LEMAITRE, Jean, POIRIER, Karine, KHALAF-NAZZAL, Reham, HULLY, Marie

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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management von Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.

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