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Michael F Hammer

Explore the profile of Michael F Hammer including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 124
Citations 6312
Followers 0
Related Specialties
Genetics
Biology
Science
Top 10 Co-Authors
Tatiana M Karafet
Joseph C Watkins
Murray P Cox
Krishna R Veeramah
August E Woerner
Fernando L Mendez
Jeffrey D Wall
Herawati Sudoyo
Jason A Wilder
Brian Hallmark
Published In
Mol Biol Evol
Genetics
Epilepsia
Proc Natl Acad Sci U S A
Am J Hum Genet
Affiliations
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Recent Articles
1.
Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies
Conecker G, Hecker J, Hammer M
Ther Adv Rare Dis . 2025 Feb; 6:26330040241252449. PMID: 39989508
Families are a driving force in accelerating the understanding and science of SCN8A. The urgency felt by families facing the absence of treatments for their children makes them uniquely positioned...
2.
Patients carrying pathogenic SCN8A variants with loss- and gain-of-function effects can be classified into five subgroups exhibiting varying developmental and epileptic components of encephalopathy
Hack J, Watkins J, Schreiber J, Hammer M
Epilepsia . 2024 Nov; 65(11):3324-3334. PMID: 39556335
Objective: Phenotypic heterogeneity presents challenges in providing clinical care to patients with pathogenic SCN8A variants, which underly a wide disease spectrum ranging from neurodevelopmental delays without seizures to a continuum...
3.
Candesartan restores blood-brain barrier dysfunction, mitigates aberrant gene expression, and extends lifespan in a knockin mouse model of epileptogenesis
Hammer M, Bahramnejad E, Watkins J, Ronaldson P
Clin Sci (Lond) . 2024 Aug; 138(17):1089-1110. PMID: 39092536
Blockade of Angiotensin type 1 receptor (AT1R) has potential therapeutic utility in the treatment of numerous detrimental consequences of epileptogenesis, including oxidative stress, neuroinflammation, and blood-brain barrier (BBB) dysfunction. We...
4.
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability
Roychaudhury A, Lee Y, Choi T, Thomas M, Khan T, Yousaf H, et al.
Ann Neurol . 2024 Jul; 96(5):914-931. PMID: 39073169
Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these...
5.
Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants
Hack J, Watkins J, Hammer M
Biol Open . 2024 Mar; 13(4). PMID: 38466077
Distinguishing clinical subgroups for patients suffering with diseases characterized by a wide phenotypic spectrum is essential for developing precision therapies. Patients with gain-of-function (GOF) variants in the SCN8A gene exhibit...
6.
Sex differences in physiological response to increased neuronal excitability in a knockin mouse model of pediatric epilepsy
Hammer M, Krzyzaniak C, Bahramnejad E, Smelser K, Hack J, Watkins J, et al.
Clin Sci (Lond) . 2024 Feb; 138(4):205-223. PMID: 38348743
Background: Epilepsy is a common neurological disease; however, few if any of the currently marketed antiseizure medications prevent or cure epilepsy. Discovery of pathological processes in the early stages of...
7.
Greater female than male resilience to mortality and morbidity in the Scn8a mouse model of pediatric epilepsy
Bahramnejad E, Barney E, Lester S, Hurtado A, Thompson T, Watkins J, et al.
Int J Neurosci . 2023 Nov; 134(12):1611-1623. PMID: 37929583
Aims: Females and males of all ages are affected by epilepsy; however, unlike many clinical studies, most preclinical research has focused on males. Genetic variants in the voltage-gated sodium channel...
8.
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy
Chung K, Hack J, Andrews J, Galindo-Kelly M, Schreiber J, Watkins J, et al.
Epilepsia . 2023 Aug; 64(12):3365-3376. PMID: 37585367
Objective: Genetic variants in the SCN8A gene underlie a wide spectrum of neurodevelopmental phenotypes including several distinct seizure types and a host of comorbidities. One of the major challenges facing...
9.
The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome
Andrews J, Galindo M, Hack J, Watkins J, Conecker G, Hammer M
J Registry Manag . 2023 Aug; 50(1):4-10. PMID: 37577282
Genetic variants in the gene underlie a wide spectrum of neurodevelopmental phenotypes that range from severe epileptic encephalopathy to benign familial infantile epilepsy to neurodevelopmental delays with or without seizures....
10.
Distinguishing Loss-of-Function and Gain-of-Function Variants Using a Random Forest Classification Model Trained on Clinical Features
Hack J, Horning K, Juroske Short D, Schreiber J, Watkins J, Hammer M
Neurol Genet . 2023 May; 9(3):e200060. PMID: 37152443
Background And Objectives: Pathogenic variants at the voltage-gated sodium channel gene, , are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine...