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Early onset seizures and Rett-like features associated with mutations in CDKL5
TLDR
Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features ofRTT.
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
TLDR
In humans, loss-of-function SLC6A3 mutations that impair DAT-mediated dopamine transport activity are associated with an early-onset complex movement disorder, and identification of the molecular basis of IPD suggests SLC 6A3 as a candidate susceptibility gene for other movement disorders associated with parkinsonism and/or dystonic features.
Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine
TLDR
It is concluded that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma, which may have important implications for the understanding and treatment of this dramatic syndrome.
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.
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C
TLDR
Evidence is provided of the extreme phenotypic diversity and low penetrance associated with the R644C mutation and nine additional patients in eight families with this mutation are reported on.
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular
TLDR
It is proposed that in FSHD, quantitative variation in a uniform mutation mechanism influences age at onset, but by deletion rather than expansion of DNA.
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.
TLDR
The Southern blot analysis with DNA probe p13E-11 has created a valuable molecular diagnostic test for FSHD with specificity at a fragment size < 34 kb of or very near to 100% (lower 95% CI 98.2%).
Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features
TLDR
A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children, and a number of MRI characteristics distinguished ADEM from CIS cases.
Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
To define better the phenotype and genotype of familial and sporadic cases of paroxysmal kinesigenic dyskinesia (PKD) caused by mutations in the PRRT2 gene presenting in the paediatric age group.
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