Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in PRICKLE1 (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees. The identified PRICKLE1 mutation blocks the PRICKLE1 and REST interaction in vitro and disrupts the normal function of PRICKLE1 in an in vivo zebrafish overexpression system. PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.

Summary:Purpose: We conducted a controlled study to investigate the relation of iron status and first febrile seizure (FFS).Methods: Measures of iron sufficiency including hemoglobin concentration (HB), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and plasma ferritin (PF) were prospectively measured in 75 children with FFS and compared with 75 controls matched for age and sex with febrile illnesses without convulsions.Results: Mean ferritin level was significantly lower in cases with FFS (29.5 ± 21.3 g/L) than in controls (53.3 ± 37.6 g/L) with p ‫ס‬ 0.0001. The proportion of subjects with a PF level Յ30 g/L was significantly higher among children with FFS (49 of 75 vs. 24 of 75) than in controls (p ‫ס‬ 0.000). Mean levels of HB, MCV, and MCH also were lower among FFS cases, but differences failed to attain statistical significance. A higher proportion of cases with FFS had an HB <110 g/L, MCV <72 fL, and MCH <24 pg than did the controls, but the differences were not statistically significant. There were no statistically significant differences between the cases and the controls in the mean peak temperature on admission, types of underlying illness, or family history of epilepsy and of febrile convulsion.Conclusions: PF level was significantly lower in children with FFS than in the reference group, suggesting a possible role for iron insufficiency in FFS. Key Words: Iron status-First febrile seizure.Febrile seizures (FSs) are the most common type of seizures, occurring in 2-5% of all children (1). Because of their association with later epilepsy, recent studies have attempted to identify their risk factors (2,3), including family history of febrile convulsions or epilepsy, perinatal factors, features of the acute underlying illnesses accompanying the FS, and the temperature peak. Pisacane et al. (4) reported that anemia was more common in children younger than 2 years with febrile seizures (FSs), whereas, in contrast, Kobrinsky et al. (5) reported that iron deficiency raises the threshold for seizures. Iron is involved in the metabolism of several neurotransmitters, and monoamine and aldehyde oxidases are reduced in iron-deficiency anemia (6), which is common during the second and third years of life, and has variably been associated with behavioral and developmental disturbances (7). In the present study, we focus on the assessment of the relation, if any, of iron status with FFS. PATIENTS AND METHODS Children with first febrile seizure (FFS) admitted to the Departments of Pediatrics, Princess Rahma and KingHussein Hospitals, between January and December 2000, were considered for inclusion in the study. FS was defined as an event in infancy or childhood, usually occuring between ages 3 months and 6 years, associated with fever but without evidence of intracranial infection or other defined causes of seizures. A single seizure of <15 min duration in the presence of fever without focal features was defined as a simple FS, whereas seizures were defined as complex if they lasted >15 min, had...

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The overall knowledge and attitudes of Jordanians towards epilepsy is relatively comparable with the results from Asian countries but more negative when compared with reports from the Western countries. Consequently, well-organized educational campaigns are needed to improve public perception about epilepsy.

This clinical study was conducted to evaluate the diagnostic value of C‐reactive protein (CRP), interlekin‐6 (IL‐6) and immunoglobulin M (IgM) in the early diagnosis of neonatal sepsis. The diagnostic values of each marker separately or in combinations were evaluated. The optimal cut‐off values of each marker in the diagnosis of neonatal sepsis were defined. Between December 2004 and March 2005, a total of 78 neonates at different ages with different diagnoses in a neonatal intensive care unit in North Jordan were enrolled. Patients were classified into ‘sepsis’ group, ‘probable sepsis’ group and ‘no sepsis’ group. Blood samples were collected for CRP, IL‐6 and IgM determination. A CRP value of 5 mg/l was the best among the three parameters with 95% sensitivity and 98% negative predictive value. Combination between parameters was helpful in enhancing the ability to diagnose sepsis. The best combination was CRP ≥ 5 mg/l and/or IgM of ≥20 mg/dl. We conclude that CRP, IL‐6 and IgM are helpful in the early diagnosis of Gram‐negative neonatal sepsis. However, CRP continues to be the best single test. The use of both CRP and IgM in combination was the most helpful in predicting Gram‐negative neonatal sepsis. We speculate a significant role of this combination in making decisions regarding antibiotics treatment and upgrading the level of medical care and observation in a setting where Gram‐negative micro‐organisms are causing the majority of neonatal infections.