Article
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
European journal of human genetics : EJHG - 1 Oct 2020
Doummar Diane, Dentel Christel, Lyautey Romane, Metreau Julia, Keren Boris, Drouot Nathalie, Malherbe Ludivine, Bouilleret Viviane, Courraud Jérémie, Valenti-Hirsch Maria Paola, Minotti Lorella, Dozieres-Puyravel Blandine, Bär Séverine, Scholly Julia, Schaefer Elise, Nava Caroline, Wirth Thomas, Nasser Hala, de Salins Marie, de Saint Martin Anne, Warde Marie Thérèse Abi, Kahane Philippe, Hirsch Edouard, Anheim Mathieu, Friant Sylvie, Chelly Jamel, Mignot Cyril, Rudolf Gabrielle
Abstract excerpt
Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-onset choreodystonia preceded by paroxysmal dyskinesia and associated with cognitive impairment and interictal EEG abnormalities. Here, we report three new cases with biallelic PDE2A variants identified by trio whole-exome...
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