Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"Epileptic encephalopathy"”.
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques to study consanguineous families with a complex motor disorder, infantile …
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Diverse Mechanisms Impair Thalamic Circuit Function in a Dravet Syndrome Mouse Model
Dravet syndrome (DS) is an infantile epileptic encephalopathy that is caused by loss-of-function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel, NaV1.1. Haploinsufficiency of NaV1.1 in DS patients leads to imbalanced excitability across brain circuits, resulting in a …
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NOVEL THERAPEUTIC APPROACHES EMERGING FROM HCN CHANNELS STRUCTURAL AND FUNCTIONAL STUDIES
… HCN1 gene have been linked to Early Infantile Epileptic Encephalopathy (EIEE) and a spectrum of neurodevelopmental disorders (ND). Despite the growing number of identified HCN1 variants, the mechanisms by which they alter channel function and contribute to pathogenesis remain poorly understood. …
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The investigation of pathophysiological mechanisms underlying KV7-related epilepsy and neurodevelopmental delay
… cause Benign Familial Neonatal Epilepsy (BFNE), Epileptic Encephalopathy (EE) and neurodevelopmental disorder (NDD). EE is often associated with poor response to antiepileptic drugs (AEDs), whereas both EE and NDD patients display progressive loss of cognitive and behavioral functions over time. …
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EXPANSION OF CLINICAL PHENOTYPE AND USE OF KETOGENIC DIET IN RARE GENETIC CONDITIONS: GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME AND SCN8A-RELATED DISORDERS
… in the literature), (3) developmental and epileptic encephalopathy (DEE), previously reported only anecdotally and here analysed in detail, presenting a severe clinical picture but overall milder than in patients with DEE harbouring gain-of-function variants; (4) focal and myoclonic …