Andermann Syndrome Latest Advances

Find the Latest Research About Andermann Syndrome

Last Updated: 02/24/2026

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Found 12 publications

Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.

Temporal manipulation of KCC3 expression in juvenile or adult mice suggests irreversible developmental deficit in hereditary motor sensory neuropathy with agenesis of the corpus callosum.

Journal: American journal of physiology. Cell physiology
Published: February 17, 2021

Report of Two Siblings with Andermann Syndrome.

Report of Two Siblings with Andermann Syndrome.

Journal: Indian journal of pediatrics
Published: September 16, 2019

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Journal: Journal of medical genetics
Published: May 15, 2019

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene.

Journal: American journal of medical genetics. Part A
Published: October 31, 2018

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.

Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.

Journal: Neurology India
Published: July 25, 2018

A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.

A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: September 27, 2017

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.

Journal: Neurobiology of disease
Published: March 21, 2017

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.

Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Published: January 19, 2016

Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.

Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum.

Journal: Behavioural brain research
Published: July 12, 2014

Agenesis of the Corpus Callosum Due to Defective Glial Wedge Formation in Lhx2 Mutant Mice.

Agenesis of the Corpus Callosum Due to Defective Glial Wedge Formation in Lhx2 Mutant Mice.

Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: May 01, 2014

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

Journal: Genetic counseling (Geneva, Switzerland)
Published: December 18, 2013

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

Journal: Journal of the peripheral nervous system : JPNS
Published: April 03, 2012
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Last Updated: 02/24/2026