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Jul 26, 2017
Papadopoulou A, Gole E, Melachroinou K, Trangas T, Bountouvi E, Papadimitriou A
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functio...
Jul 26, 2017
Imataka G, Yoshihara S
In the wake of successive cases of fatal accidents caused by patients behind the wheel whose driving was likely to be hindered due to paroxysmal diseases, including epilepsy, there has been an outcry from victims deman...
Jul 26, 2017
Assi L, Saklawi Y, Karam PE, Obeid M
OPINION STATEMENT: In the absence of a culprit epileptogenic lesion, pharmacoresistant seizures should prompt the physician to consider potentially treatable metabolic epilepsies, especially in the presence of developm...
Jul 26, 2017
Freud A, Sheiner E, Wainstock T, Landau D, Walfisch A
OBJECTIVE: We evaluated the possible association between fetal gender and long-term pediatric neurological morbidity. METHODS: We performed a population-based retrospective cohort analysis comparing the risk of...
Jul 25, 2017
Pereira AG, Bahi-Buisson N, Barnerias C, Boddaert N, Nabbout R, de Lonlay P, Kaminska A, Eisermann M
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabli...
Jul 25, 2017
Brna PM, Harvey AS, Leventer RJ
Polymicrogyria (PMG) is a heterogeneous malformation of cortical development characterized by excessive gyration and abnormal cortical lamination. Typically, bilateral forms have more severe developmental delay and ear...
Jul 25, 2017
Matsuura R, Hamano SI, Ikemoto S, Hirata Y, Suzuki K, Kikuchi K, Takahashi Y
A 3-year-old boy with normal development presented with acute cerebellitis at one year and 10 months of age. His truncal ataxia resolved without treatment. He experienced a relapse of truncal ataxia and atonic seizures...
Jul 25, 2017
Arya R, Spaeth C, Gilbert DL, Leach JL, Holland KD
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic ...
Jul 25, 2017
Zhang Y, Wang Q, Li DX, Liu YP, Song JQ, Li MQ, Qin YP, Yang YL
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and ...
Jul 25, 2017
Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A
Acyl-CoA dehydrogenase family, member 9 (ACAD9) mutation is a frequent, usually fatal cause of early-onset cardiac hypertrophy and mitochondrial respiratory chain complex I deficiency in early childhood. We retrospecti...

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