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Sep 30, 2014
Sarov M, Not A, de Baulny HO, Masnou P, Vahedi K, Bousser MG, Denier C
BACKGROUND: Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, e...
Sep 23, 2014
Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, Steinfeld R, Ackerley C, Shyr C, Au N, Selby K, van Allen M, Vallance H, Wevers R, Watkins D, Rosenblatt D, Ross CJ, Conibear E, Wasserman W, van Karnebeek C
BackgroundWe report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical...
Sep 23, 2014
Ermeidi E, Balafa O, Spanos G, Zikou A, Argyropoulou M, Siamopoulos KC
BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiologic entity characterized by headache, visual disturbances, seizures, and the presence of edema on MRI scan, predominantly in the poste...
Sep 23, 2014
Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK
The aim of this study was to investigate the effects of ketogenic diet (KD) on cognitive function in patients with glucose transporter protein 1 deficiency syndrome (GLUT1-DS). Six patients with GLUT1-DS who were refer...
Sep 19, 2014
Zhu DN, Xie MM, Wang JH, Wang J, Ma DY, Sun L, Li LC, Wang MM
OBJECTIVE: To study the clinical efficiency, electroencephalogram (EEG) changes and cognitive improvements of ketogenic diet (KD) in children with refractory epilepsy. METHODS: Twenty pediatric patients (7-61 m...
Sep 19, 2014
Westmark CJ
Numerous neurological disorders including fragile X syndrome, Down syndrome, autism, and Alzheimer's disease are co-morbid with epilepsy. We have observed elevated seizure propensity in mouse models of these disorders ...
Sep 18, 2014
Brazil R
Sep 17, 2014
Işikay S
L-2 Hydroxyglutaric aciduria is a rare, progressive, autosomal recessively inherited metabolic disorder of organic acid metabolism. It is characterised by macrocephaly, progressive neurological syndrome with cerebellar...
Sep 16, 2014
Sharma S, Jain P
The ketogenic diet is a high-fat, low-carbohydrate, and restricted protein diet that is useful in patients with refractory epilepsy. The efficacy of the ketogenic diet is better than most of the new antiepileptic drugs...
Sep 16, 2014
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems...