GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies
of unknown etiology with a characteristic electroencephalogram (EEG) pattern and …
of unknown etiology with a characteristic electroencephalogram (EEG) pattern and …
Calcium-permeable ion channels in pain signaling
The detection and processing of painful stimuli in afferent sensory neurons is critically dependent
on a wide range of different types of voltage- and ligand-gated ion channels, including …
on a wide range of different types of voltage- and ligand-gated ion channels, including …
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
…, S Markkinen, SE Heron, MS Hildebrand… - Nature …, 2015 - nature.com
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing
…, AP DeLuca, MS Hildebrand… - Proceedings of the …, 2010 - National Acad Sciences
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility of …
diagnosis expensive and time consuming using available methods. To assess the feasibility of …
[PDF][PDF] A cellular taxonomy of the adult human spinal cord
The mammalian spinal cord functions as a community of cell types for sensory processing,
autonomic control, and movement. While animal models have advanced our understanding of …
autonomic control, and movement. While animal models have advanced our understanding of …
[HTML][HTML] Hereditary hearing loss and deafness overview
… Hildebrand MS 2 , … A Eliot Shearer, MD, PhD, Michael S Hildebrand, PhD, Amanda M
Schaefer, MS, LGC, and Richard JH Smith, MD. … Michael S Hildebrand, PhD (2010-present) …
Schaefer, MS, LGC, and Richard JH Smith, MD. … Michael S Hildebrand, PhD (2010-present) …
[PDF][PDF] Human male infertility caused by mutations in the CATSPER1 channel protein
MR Avenarius, MS Hildebrand, Y Zhang… - The American Journal of …, 2009 - cell.com
Male infertility, a common barrier that prevents successful conception, is a reproductive difficulty
affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from …
affecting 15% of couples. Heritable forms of nonsyndromic male infertility can arise from …
[HTML][HTML] Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children
WJ Kimberling, MS Hildebrand, AE Shearer… - Genetics in …, 2010 - nature.com
Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing
loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in …
loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in …
[PDF][PDF] Deafness and hereditary hearing loss overview
Disease characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural,
or a combination of both; syndromic (associated with malformations of the external ear …
or a combination of both; syndromic (associated with malformations of the external ear …
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
…, B Leal, EVS Hessel, K Hallmann, MS Hildebrand… - Brain, 2013 - academic.oup.com
Epilepsy comprises several syndromes, amongst the most common being mesial temporal
lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with …
lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with …