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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
TLDR
It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet. Expand
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
TLDR
Analysis of clinical manifestations at diagnosis and over a 6–7 years follow‐up indicated that almost all patients with MPSIII expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior, in contrast to relatively homogeneous early onset manifestations. Expand
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellarExpand
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
TLDR
It is shown for the first time that impaired mitochondrial fusion is responsible for a deficiency to repair stress-induced mitochondrial DNA damage and it is likely that defect in mitochondrial DNA repair is due to variability in repair protein content across the mitochondrial population and is at least partially responsible for mitochondrial DNA instability. Expand
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
TLDR
It is shown that WDR73 was present in the brain and kidney and was located diffusely in the cytoplasm during interphase but relocalized to spindle poles and astral microtubules during mitosis, and plays a crucial role in the maintenance of cell architecture and cell survival. Expand
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
TLDR
In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival and improved indices of cardiomyopathy, motor skills, and functional independence. Expand
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
TLDR
Owing to the remarkable clinical variability of CDG, this novel disease probably remains largely underdiagnosed and the successful treatment ofCDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency. Expand
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
TLDR
STXBP1 (MUNC18‐1) mutations have been associated with various types of epilepsies, mostly beginning early in life, and this gene was studied in a cohort of patients with early onset epileptic encephalopathy to refine the phenotype associated with STX BP1 aberrations. Expand
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia
TLDR
Progress in neuroimaging has aided the approach to brain malformations associated with mental retardation hence allowing a new classification of conditions previously described as non-syndromic, based on very similar brain mal Formations in affected subjects. Expand
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
TLDR
A new syndrome featuring bilateral periventricular heterotopia, mental retardation, and epilepsy, mapping to chromosome 5q14.3-q15 is identified, reinforcing the extreme clinical and genetic heterogeneity of PH. Expand
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