Hammer MF - Search Results

1

Machine learning models reveal distinct disease subgroups and improve diagnostic and prognostic accuracy for individuals with pathogenic SCN8A gain-of-function variants.

Hack JB, Watkins JC, Hammer MF. Hack JB, et al. Among authors: hammer mf. Biol Open. 2024 Apr 15;13(4):bio060286. doi: 10.1242/bio.060286. Epub 2024 Apr 24. Biol Open. 2024. PMID: 38466077 Free PMC article.

2

Sex differences in physiological response to increased neuronal excitability in a knockin mouse model of pediatric epilepsy.

Hammer MF, Krzyzaniak CT, Bahramnejad E, Smelser KJ, Hack JB, Watkins JC, Ronaldson PT. Hammer MF, et al. Clin Sci (Lond). 2024 Feb 21;138(4):205-223. doi: 10.1042/CS20231572. Clin Sci (Lond). 2024. PMID: 38348743 Free PMC article.

3

Greater female than male resilience to mortality and morbidity in the Scn8a mouse model of pediatric epilepsy.

Bahramnejad E, Barney ER, Lester S, Hurtado A, Thompson T, Watkins JC, Hammer MF. Bahramnejad E, et al. Among authors: hammer mf. Int J Neurosci. 2023 Nov 6:1-13. doi: 10.1080/00207454.2023.2279497. Online ahead of print. Int J Neurosci. 2023. PMID: 37929583

4

Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.

Chung KM, Hack J, Andrews J, Galindo-Kelly M, Schreiber J, Watkins J, Hammer MF. Chung KM, et al. Among authors: hammer mf. Epilepsia. 2023 Dec;64(12):3365-3376. doi: 10.1111/epi.17747. Epub 2023 Oct 12. Epilepsia. 2023. PMID: 37585367

5

The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.

Andrews JG, Galindo MK, Hack JB, Watkins JC, Conecker GA, Hammer MF; SCN8A Research Consortium. Andrews JG, et al. Among authors: hammer mf. J Registry Manag. 2023 Spring;50(1):4-10. J Registry Manag. 2023. PMID: 37577282 Free PMC article.

6

Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features.

Hack JB, Horning K, Juroske Short DM, Schreiber JM, Watkins JC, Hammer MF. Hack JB, et al. Among authors: hammer mf. Neurol Genet. 2023 Apr 26;9(3):e200060. doi: 10.1212/NXG.0000000000200060. eCollection 2023 Jun. Neurol Genet. 2023. PMID: 37152443 Free PMC article.

7

SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.

Hammer MF, Xia M, Schreiber JM. Hammer MF, et al. 2016 Aug 25 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Aug 25 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27559564 Free Books & Documents. Review.

8

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability.

Lee YR, Thomas MG, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu CS, Choi TI, Kyung JJ, Wang T, Ku B, Chodirker BN, Hammer MF, Gottlob I, Norton WHJ, Chudley AE, Schwartz CE, Kim CH. Lee YR, et al. Among authors: hammer mf. Res Sq [Preprint]. 2023 Mar 20:rs.3.rs-2683050. doi: 10.21203/rs.3.rs-2683050/v1. Res Sq. 2023. PMID: 36993381 Free PMC article. Preprint.

9

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Hammer MF, Pan Y, Cumbay M, Pendziwiat M, Afawi Z, Goldberg-Stern H, Johnstone L, Helbig I, Cummins TR. Hammer MF, et al. Epilepsia. 2022 Aug;63(8):1970-1980. doi: 10.1111/epi.17296. Epub 2022 Jun 5. Epilepsia. 2022. PMID: 35592948 Free PMC article.

10

Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.

Cutts A, Savoie H, Hammer MF, Schreiber J, Grayson C, Luzon C, Butterfield N, Pimstone SN, Aycardi E, Harden C, Yonan C, Jen E, Nguyen T, Carmack T, Haubenberger D. Cutts A, et al. Among authors: hammer mf. Seizure. 2022 Apr;97:50-57. doi: 10.1016/j.seizure.2022.03.008. Epub 2022 Mar 10. Seizure. 2022. PMID: 35325842 Free article.

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