Katherine Howell
@drkbhowell
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Neurologist/epileptologist, clinician-scientist.
Melbourne
Joined September 2013
Out today in @TheLancetNeuro! Collaboration with @a_mctague @BCH_PoduriLab, Greg Costain Vann Chau @alissadgama @ingridscheffer Helen Cross Sarah Mulhern @ZornitzaS @GenomeSeb and many more. Huge thanks to families who participated, and funders @MCRI_for_kids, @RCH_Foundation!.
A new global study, co-led by Murdoch Children’s, has found that #RapidGenomeSequencing, which can detect rare #geneticdiseases within weeks, is highly effective at diagnosing the cause of #epilepsy in babies & leads to better treatment options.Learn more:
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RT @MCRI_for_kids: MCRI A/Prof Katherine Howell said despite advances in #genomic technologies, which can detect rare genetic diseases in d….
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RT @MCRI_for_kids: Global partnerships that embed scientific research into clinical care are revolutionising the diagnosis and treatments f….
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Gene-STEPS: @a_mctague @0SEMS0 @ingridscheffer @alissadgama, Ann Poduri, Helen Cross, Greg Costain, Vann Chau, and more!.
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Thanks for an excellent conference, @SickKidsNews and @NatureConf! Great to have the opportunity to speak on behalf of colleagues in the International Precision Child Health Partnership and the Gene-STEPS study.
On the last day of #PrecisionChildHealth24, attendees are looking to the future with discussions on the role of artificial intelligence💻and the importance of collaboration in advancing care for every child 🌎
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RT @SickKidsNews: On the last day of #PrecisionChildHealth24, attendees are looking to the future with discussions on the role of artificia….
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RT @AAMRI_Aus: We shared the inspiring story of little Levi who was able to be quickly diagnosed as a newborn with a rare form of genetic e….
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RT @AAMRI_Aus: What a celebration at Vic Parl house last night, marking the life-saving medical research of our Vic institutes, focusing on….
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Another great laboratory-clinical collaboration, highlighting the importance of phenotypic studies such as our SCN2A Natural History Study in advancing knowledge of genetic disorders. @SCN2AAustralia.
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Late to the party, as was published in June, but happy to be part of this work by G.Berecki, S.Petrou and others, in @Brain1878. Not all SCN2A variants causing neonatal-onset DEE are straightforward gain-of-function: a finding with treatment implications.
academic.oup.com
In a functional-clinical study of SCN2A variants, Berecki et al. provide new insights into the molecular mechanism of Nav1.2 channel inactivation, predict
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RT @ingridscheffer: Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS) - Vi….
onlinelibrary.wiley.com
Objective To understand the etiological landscape and phenotypic differences between 2 developmental and epileptic encephalopathy (DEE) syndromes: DEE with spike–wave activation in sleep (DEE-SWAS)...
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Focal structural causes of infantile spasms are common, and epilepsy surgery can improve outcomes. We (first author @_emma_m_l , also @aaewarren , @0SEMS0 , others) write a review paper on surgically-remediable IESS, with useful clinical tips.
tandfonline.com
Infantile epileptic spasms syndrome (IESS) is a common developmental and epileptic encephalopathy with poor long-term outcomes. A substantial proportion of patients with IESS have a potentially sur...
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RT @AAHMS_health: Our final session is a panel with @AbbyPDouglas, @Eddie_Cliff of @PeterMacCC & @TheRMH, @drkbhowell of @MCRI_for_kids and….
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RT @MCRI_for_kids: Congrats to MCRI's A/Prof Rachel Conyers, Prof Paul Lockhart and Dr Katherine Howell, who have received MRFF Genomics He….
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RT @emmagenetics: 📢📢Incredible fully-funded PhD application. please reach out as we are interviewing now! Here's an opportunity to do imp….
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RT @_emma_m_l: The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia - my PhD cohort published in @Brain1….
academic.oup.com
Macdonald-Laurs et al. describe the clinical, imaging, histopathological and genetic features of 85 patients with focal epilepsy and bottom-of-sulcus dyspl
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Such a fun night celebrating a great collaboration! Looking forward to round 2 in Toronto later this month….
Celebrating recent paper joy in Dublin #IEC2023 with @drkbhowell Sarah Mulhern @ingridscheffer Helen Cross and honorary guest Graham! @BCH_PoduriLab @alissadgama and Greg and Vann @SickKidsNews we’ll celebrate in Toronto in a few weeks! 🎉🎉
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RT @a_mctague: Come see our poster today! Poster no 1112 GeneSTEPS study recently published in Lancet Neurology.Shifting the paradigm of ge….
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YESSSSSSSS, congratulations @GeneticsMatt!!!.
I have submitted my PhD thesis!!! I was so fortunate to have had such wonderful PhD supervisors (@0sems0, @drkbhowell, Prof Paul Lockhart & Prof Rick Leventer), advisors (@ae_frazier & @houweling_peter), collaborators and friends! @MCRI_for_kids @UniMelbMDHS @GSA_UniMelb
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RT @SickKidsNews: The #IPCHiP research team, including #SKResearch from Drs. Greg Costain & Vann Chau, used rapid #GenomeSequencing to unco….
sickkids.ca
A technique known as rapid genome sequencing has provided a diagnosis for 43 per cent of infants with unexplained epilepsy and informed their care in an international partnership.
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