The hidden genetics of epilepsy—a clinically important new paradigm
Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …
and for conducting neurobiological research that will direct future therapies. The aetiology of …
NaV1.1 channels and epilepsy
WA Catterall, F Kalume, JC Oakley - The Journal of physiology, 2010 - Wiley Online Library
Voltage‐gated sodium channels initiate action potentials in brain neurons, and sodium
channel blockers are used in therapy of epilepsy. Mutations in sodium channels are …
channel blockers are used in therapy of epilepsy. Mutations in sodium channels are …
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with
mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies …
mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies …
Pertussis prevention: reasons for resurgence, and differences in the current acellular pertussis vaccines
Pertussis is an acute respiratory disease caused by Bordetella pertussis. Due to its
frequency and severity, prevention of pertussis has been considered an important public …
frequency and severity, prevention of pertussis has been considered an important public …
The spectrum of SCN1A-related infantile epileptic encephalopathies
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome)
and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel …
and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel …
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A
mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are …
mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are …
Sodium channels, inherited epilepsy, and antiepileptic drugs
WA Catterall - Annual review of pharmacology and toxicology, 2014 - annualreviews.org
Voltage-gated sodium channels initiate action potentials in brain neurons, mutations in
sodium channels cause inherited forms of epilepsy, and sodium channel blockers—along …
sodium channels cause inherited forms of epilepsy, and sodium channel blockers—along …
Navigating the channels and beyond: unravelling the genetics of the epilepsies
Genetic factors are now recognised to have an even more important role in epilepsies than
previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and …
previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and …
Post-vaccination encephalomyelitis: literature review and illustrative case
Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disease of
the central nervous system that is usually considered a monophasic disease. ADEM forms …
the central nervous system that is usually considered a monophasic disease. ADEM forms …
Inherited neuronal ion channelopathies: new windows on complex neurological diseases
WA Catterall, S Dib-Hajj, MH Meisler… - Journal of …, 2008 - Soc Neuroscience
Studies of genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion
channels have given crucial insights into molecular mechanisms, pathogenesis, and …
channels have given crucial insights into molecular mechanisms, pathogenesis, and …