Publications by authors named "T Billette"
Article Synopsis
- * Researchers identified four unrelated patients with isolated ID who carried likely pathogenic KCNQ2 variants, typically linked to neonatal seizures and early-onset epilepsy, indicating potential relevance to ID.
- * The study noted considerable variability in the clinical presentation of ID associated with KCNQ2 variants, suggesting that multiple genetic factors or environmental influences may contribute to this diversity, calling for further research on genes linked to encephalopathy in non-epileptic ID cases.
Objective: To assess nonparoxysmal movement disorders in mutation-positive patients with alternating hemiplegia of childhood (AHC).
Methods: Twenty-eight patients underwent neurologic examination with particular focus on movement phenomenology by a specialist in movement disorders. Video recordings were reviewed by another movement disorders specialist and data were correlated with patients' characteristics.
Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis.
Ultrasound Obstet Gynecol
October 2014
Objective: To define imaging patterns of unilateral cerebellar hypoplasia (UCH), discuss possible pathophysiological mechanisms and underline the etiology and prognosis associated with these lesions.
Methods: In this retrospective study we reviewed the charts of 26 fetuses diagnosed between 2003 and 2011 with UCH, defined by asymmetrical cerebellar hemispheres with or without decreased transverse cerebellar diameter. The review included analysis of the anatomy of the cerebellar hemispheres, including foliation, borders and parenchymal echogenicity, and of the severity of the hypoplasia.
Langerhans cell histiocytosis (LCH) is a multisystemic disease, which may present with neurological involvement. We report the case of a 20-month-old girl with initial liver and skin involvement. Initial symptoms were recurrent episodes of trunk dystonia, lasting approximately 2 months prior to the diagnosis of LCH.
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