Pages that link to "Q38714406"

The following pages link to De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (Q38714406):

Displaying 13 items.

• Eag1 K+ Channel: Endogenous Regulation and Functions in Nervous System. (Q37711718) (← links)
• Cyclic expression of the voltage-gated potassium channel KV10.1 promotes disassembly of the primary cilium (Q38775376) (← links)
• A new mechanism of voltage-dependent gating exposed by KV10.1 channels interrupted between voltage sensor and pore (Q41598401) (← links)
• Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. (Q48315981) (← links)
• Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities (Q49838497) (← links)
• De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism (Q50098318) (← links)
• Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy (Q50109066) (← links)
• Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox. (Q52654625) (← links)
• Kv2.1 voltage-gated potassium channels in developmental perspective (Q90071795) (← links)
• Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures (Q91100012) (← links)
• Is KCNH1 mutation related to coronary artery ectasia (Q92054694) (← links)
• Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy (Q92151975) (← links)
• Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome (Q92471065) (← links)