User:Dpryan

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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 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

Contents 1 Inherited epilepsy and seizure disorders 2 Movement/Developmental Disorders 3 Cardiovascular specific disorders 4 Vision disorders 5 Auditory Disorders 6 Ataxias 7 Ion/molecule balance 8 Other/unclassified 9 Pain

[edit] 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)

[edit] 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)

[edit] 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

[edit] Vision disorders

• Retinitis pigmentosa (CNGA1, CNGB1)
• Achromatopsia
• X-linked congenital stationary night blindness

[edit] Auditory Disorders

• Nonsyndromic deafness (KCNQ4)

[edit] Ataxias

• Episodic and progressive ataxia
• Episodic Ataxia
• Spinocerebellar ataxia type-6
• Spinocerebellar ataxia type-13

[edit] 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)

[edit] Other/unclassified

• Polycystic kidney disease
• Malignant hyperthermia

[edit] Pain

• Erythromelalgia
• Paroxysmal extreme pain disorder
• Channelopathy-associated insensitivity to pain
• Familial hemiplegic migraine

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