User:Dpryan

From Wikipedia, the free encyclopedia

I'm a grad student at UCSF in the Ptáček lab. I'm slowly going through and modifying the ion channel and channelopathy pages since that's what I'm an expert in. I'm 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 myotonias
• Sodium channel myotonias
• Periodica paralytica paramyotonia
• Paramyotonia congenita
• Myasthenic syndrome

• Calcium Channelopathies

• Hypokalemic periodic paralysis (CACN1AS)

• Chloride channelopathies

• Myotonia congenita (ClCN1)

• Potassium channelopathies

• Periodic paralysis (KCNC4)
• 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

• Vision disorders:

• Retinitis pigmentosa (CNGA1, CNGB1)
• Achromatopsia (CNGA3, CNGB3)
• 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
• Bartter's syndrome (KCNJ1)
• Persistent hyperinsulinemic hypoglycemia of infancy (KCNJ11)
• Diabetes mellitus? (KCNJ9, KCNJ11, SUR1)

• Other/unclassified:

• Beckwith-Wiedemann_syndrome (KCNQ1)
• Malignant hyperthermia

• Pain:

• erythromelalgia (NaV1.7)
• Channelopathy-associated insensitivity to pain (NaV1.7)
• Familial hemiplegic migraine