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user:Dpryan

I'm was a grad student at UCSF in the [http://www.ucsf.edu/humgene/ Ptáček lab], where I finished my PhD in neuroscience in March 2010. I've worked primarily on thyrotoxic hypokalemic periodic paralysis (though I'm not touching the article given the COI issues surrounding my position in the field). I am currently a post-doc at the Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) working on neurocognitive disorders. I'm slowly going through and modifying the ion channel and channelopathy pages since that's what I'm an expert in. I did a little work on the Lima, Ohio page, since I'm from there.

To contact me, click on the "E-mail this user" link on the side bar.

Articles should (more or less) conform to the Medicine manual of style.

To add/work on (page(s) currently in progress are in the Sandbox):

  • Various ion channel pages
  • Channel kinetics pages

Inherited epilepsy and seizure disorders

:*GEFS+

:*Severe myoclonic epilepsy of infancy

:*Intractable epilepsy in childhood

:*Childhood absence epilepsy

::...and febrile convulsions

:*Benign familial neonatal convulsions

:*Juvenile myoclonic epilepsy (Janz syndrome)

:*Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Movement/Developmental Disorders

:*Sodium channelopathies:

::*Hyperkalemic periodic paralysis

::*Potassium-aggravated myotonia

::*Paramyotonia congenita

::*Myasthenic syndrome

:*Calcium Channelopathies

::*Hypokalemic periodic paralysis (CACN1AS)

:*Chloride channelopathies

::*Myotonia congenita (ClCN1)

:*Potassium channelopathies

::*Andersen-Tawil syndrome (KCNJ2)

Cardiovascular specific disorders

:*Brugada syndrome (NaV1.5)

:*Long QT syndrome (NaV1.5, KCNQ1, KCNH2)

:*Ventricular fibrillation, idiopathic (NaV1.5)

:*Atrial fibrillation (KCNQ1)

:*Short QT syndrome(KCNQ1)

:*Sick sinus syndrome (HCN4)

:*Timothy syndrome

:*Dilated Cardiomyopathy

Vision disorders

:*Retinitis pigmentosa (CNGA1, CNGB1)

:*Achromatopsia

:*X-linked congenital stationary night blindness

Auditory Disorders

:*Nonsyndromic deafness (KCNQ4)

Ataxias

:*Episodic and progressive ataxia

:*Episodic Ataxia

:*Spinocerebellar ataxia type-6

:*Spinocerebellar ataxia type-13

Ion/molecule balance

:*Hypomagnesemia with secondary hypocalcemia

:*Focal segmental glomerulosclerosis

:*Mucolipidosis type IV

:*Bartter's syndrome (KCNJ1)

:*Persistent hyperinsulinemic hypoglycemia of infancy (KCNJ11)

:*Diabetes mellitus (KCNJ9, KCNJ11, SUR1)

:*Congenital hyperinsulinism/Neonatal diabetes/DEND Syndrome (KCNJ11)

:*Congenital hyperinsulinism (SUR1)

Other/unclassified

:*Polycystic kidney disease

:*Malignant hyperthermia

Pain

:*Erythromelalgia

:*Paroxysmal extreme pain disorder

:*Channelopathy-associated insensitivity to pain

:*Familial hemiplegic migraine

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