epilepsyinfantile spasmsintractable seizuresmonosomy 1p36 syndromeMonosomy 1p36 syndrome is a recognized syndrome with multiple congenital anomalies; medical problems of this syndrome include developmental delay, facial dysmorphisms, hearing loss, short stature, brain anomalies, congenital heart defects. ...
There is a paucity of data of these patients when they get older.Methods: Patients admitted to our epilepsy center were screened for being older than 40 years at the time of last admission and being diagnosed with IGE according to ILAE-1989 criteria. The clinical features, syndromes and ...
Magnetic resonance imaging volumetry and clinical analysis of epilepsy patients with unilateral hippocampal abnormality status epilepticusBackground: In order to clarify the correlation between morphological characteristics and clinical features in epilepsy patients with unilateral ... M Matsufuji,H Utsunomiya,T...
We report clinical, EEG, and prognostic features of partial epilepsy (PE) with secondary bilateral synchrony (SBS) and their differences with respect to patients without this particular EEG pattern. The study group comprised 176 patients with symptomatic or cryptogenic PE. We evaluated age, sex. ...
CUBN AR NM_001081 Intermittent nephrotic range proteinuria ± with epilepsy DGKE∗ AR NM_003647 Hemolytic-uremic syndrome, SRNS E2F3 AD NM_001949 FSGS + mental retardation (whole gene deletion) EMP2 AR NM_001424 Childhood-onset SRNS and SSNS INF2 AD NM_022489 Familial and sporadic SRNS, FS...
(1d). guideline 5.6.3 we recommend that children with antenatally detected abnormalities in the fetal kidneys and/or urinary tract should have specialist follow up if features of urinary tract infection are identified (1c). summary of audit measures audit measure 1:proportion of uk renal units...
Five had refractory epilepsy that developed at the time of their acute illness, and the other two developed epilepsy post Salmonella meningitis at two and four years. All seven cases had focal or multifocal epileptiform discharges on EEG recordings. In addition, one survivor who did not display ...
[54], we hypothesize that the observed features of epilepsy and DD in this patient, might be associated with the de novo dinucleotide variant inSYN3. Finally, we identified de novo missense variants inATAD3A(MIM 617183) andEMC1(MIM 616875) and additional collaborative efforts supported these ...
the primary use of the eeg in contemporary clinical practice is in the assessment of epilepsy, although it is also valuable in evaluating levels of consciousness, in localising lesions, and in the diagnosis of encephalitides...
Overall, the comparison of the clinical profiles suggested a gradient of severity between the three major mutations with differences in intellectual (p = 0.029) and motor (p = 0.039) disabilities being statistically significant. For patients with epilepsy, age at onset of seizures was ...