Startle disorders of man: hyperekplexia, jumping and startle epilepsy

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Clinical genetics·2013

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

Clinical genetics·2012

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Annals of neurology·2009

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Neurology·2009

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures.

Neurology·2008

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Neurology·2007

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

Pediatric ocular motor abnormalities: clinical features and neurological correlates.

Brain & development·2026

Expert consensus-based clinical roadmap for non-invasive brain stimulation in children and adolescents with cerebral palsy.

Brain & development·2026

End-diastolic velocity as a simplified bedside predictor of estimated cerebral perfusion pressure in neonates: A multicentre prospective observational study.

Brain & development·2026

Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.

Brain & development·2026

Executive summary of the Japanese clinical practice guidelines for tuberous sclerosis complex-associated epilepsy 2025.

Brain & development·2026

Green hydrogen generation from seawater based on the plasmonic activation induced by Ti3C2 MXene in oxygen-deficient CuO1-X -poly(N-methylpyrrole) photocathodes.

RSC advances·2026

Holographic is Hamiltonian, relatively.

Letters in mathematical physics·2026

Deciphering and improving human homogentisate 1,2-dioxygenase function through knowledge gaining directed evolution: implications for alkaptonuria.

International journal of biological macromolecules·2026

Thermal stratification onset increases phytoplankton resource use efficiency by promoting photosynthetic activity in a subtropical reservoir.

Journal of environmental management·2026

Rethinking the origin of life at seafloor hydrothermal vents.

Proceedings of the National Academy of Sciences of the United States of America·2026

Light-induced carotenogenesis enhances growth and high hydrostatic pressure tolerance in a deep-sea bacterium by reducing intracellular ROS.

Applied and environmental microbiology·2026

Related Experiment Videos

Startle disorders of man: hyperekplexia, jumping and startle epilepsy

Related Concept Videos

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Levetiracetam for the treatment of idiopathic generalized epilepsy with myoclonic seizures.

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Pediatric ocular motor abnormalities: clinical features and neurological correlates.

Expert consensus-based clinical roadmap for non-invasive brain stimulation in children and adolescents with cerebral palsy.

End-diastolic velocity as a simplified bedside predictor of estimated cerebral perfusion pressure in neonates: A multicentre prospective observational study.

Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.

Executive summary of the Japanese clinical practice guidelines for tuberous sclerosis complex-associated epilepsy 2025.

Green hydrogen generation from seawater based on the plasmonic activation induced by Ti3C2 MXene in oxygen-deficient CuO1-X -poly(N-methylpyrrole) photocathodes.

Holographic is Hamiltonian, relatively.

Deciphering and improving human homogentisate 1,2-dioxygenase function through knowledge gaining directed evolution: implications for alkaptonuria.

Thermal stratification onset increases phytoplankton resource use efficiency by promoting photosynthetic activity in a subtropical reservoir.

Rethinking the origin of life at seafloor hydrothermal vents.

Light-induced carotenogenesis enhances growth and high hydrostatic pressure tolerance in a deep-sea bacterium by reducing intracellular ROS.

Related Experiment Videos

Startle disorders of man: hyperekplexia, jumping and startle epilepsy

Related Concept Videos

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