ListarNeuropediatría por tema "Epilepsy"

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Lactic acidosis, rhabdomyolysis, and hyperammonemia: Atypical presentation in a new patient with PDE-ALDH7A1 defect

Bottino, Marina; Boyer, Monica; Steenari, Maija R.; Barrick, Rebekah; Abdenur, Jose E. (Elsevier, 2025-10-10)

Pyridoxine-Dependent Epilepsy (PDE) is an autosomal recessive disorder caused by biallelic variants in ALDH7A1. The most common presentation is intractable seizures in the neonatal/early infantile period, which respond to ...
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders : Defining Disease Progression and Clinical Profiles

Domínguez-Carral, Jana; Domínguez Cobo, Ana María; Balsells, Sol; Aguilar Ros, Anna; Chang, Chu-Ting; Ludlam, William Grant; Yang, Kathryn; Bernardi, Katerina; Salazar Villacorta, Ainara; Di Pisa, Veronica; Lamagrande Casanova, Nuria; González Alguacil, Elena; De la Casa Fages, Beatriz; Chinigioli, Micaela; Okumura, Akihisa; Rodríguez, Josefina; Agarwal, Ayush; Muñoz Chesta, Daniela; Reynoso Osnayo, Carolina; Lin, Amy (Wiley-Liss, 2026-07)

Objective: Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first ...

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