[…] osmolality environment. 61 Rentschler AE...Schwan WR 23175504 2013 33 Pleiotropic roles of uvrY on biofilm formation, motility and virulence in uropathogenic Escherichia coli CFT073. 61 Mitra A...Mukhopadhyay S 23383333 2013 34 [FimA fimbriae of the periodontal [malacards.org]

This observation combined with recent data from the literature, suggest that mutations in TBCD24 cause a pathological continuum, with FIME at the "benign" end and severe drug-refractory epileptic encephalopathy on the severe end. [ncbi.nlm.nih.gov]

Conclusions: The rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI. [neurology.org]

IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. [scipers.com]

(FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia. [books.google.de]

[…] infantile myoclonic epilepsy Disease definition A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia [orpha.net]

Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). [ncbi.nlm.nih.gov]

Diseases related with Ataxia and Generalized myoclonic seizures In the following list you will find some of the most common rare diseases related to Ataxia and Generalized myoclonic seizures that can help you solving undiagnosed cases. [mendelian.co]

Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. {ECO:0000269 PubMed:24291220}. Note The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

manifestations For SCN1A related Dravet syndrome / GEFSP2 / familial hemiplegic migraine: Treatment Some sodium channel agents such as phenytoin, carbamazepin and lamotrigine should be avoided Management Monitoring and management of progressive changes [swisscheckup.com]

[…] and slow-wave complexes at 3 Hz associated with myoclonus.  Interictal EEG is variable and ranges from normal to background slowing and generalized spike and slow-wave activity  Variable course and outcome.  Many resistant to drug therapy  Less favorable [slideshare.net]

In this patient, IPS induced moderate‐voltage irregular spike‐and‐slow wave complexes and paroxysmal bursts of high‐voltage polyspikes more evident over the occipital region (Fig. 4b, c). [onlinelibrary.wiley.com]

Ictal EEG Generalized polyspike or spike and slow-wave discharges. [epilepsy.com]

Prolonged IPS induced synchronous eyelid myoclonias (b) and finally a burst of high‐voltage polyspike‐and‐slow wave complexes over the occipital regions (c). [onlinelibrary.wiley.com]

[…] and slow-wave complexes.  Variable course and outcome.  One half experience encephalopathic effects and suffer from persistent GTCS, myoclonic-atonic status and dementia. 20. [slideshare.net]

Inter-ictal EEG Normal. Ictal EEG Generalized polyspike or spike and slow-wave discharges. [epilepsy.com]