Hoy es el #DiaInternacionaldelTDAH. Una de las patologías más frecuentes que veo en consulta: de 15 niños visitados hoy, 6 ha sido porque tienen TDAH. ¿Parecen muchos? pues es lo habitual. Dejadme explicaros mi día a día en la atención a estos niños.

Es día internacional del síndrome por deficiencia #CDKL5 #CDKL5AwarenessMonth Un trastorno genético ligado al cromosoma X. Conoce mas gracias a ASOCIACIÓN CDKL5👇 aacdkl5.org Este documental presenta a familias de la comunidad CDKL5 España, cómo es convivir con esta

Today is World CDKL5 Day 🌍💜 #CDKL5 deficiency disorder is a rare genetic 🧬 condition that includes early-onset #epilepsy & neurodevelopmental impairment that affects cognitive, motor, speech and visual function. Learn more at CDKL5.com 💜 #CDKL5Awareness

#Dravet #SCN1A request for grant applications by Dravet Syndrome Foundation is now open! info below

It's #DravetAwarenessDay. Can you share our film to reach more people in need of our support? #LittleMomentsMatter shares what 3 families love about their children, what they don't love about #DravetSyndrome & how DSUK has supported them. Park Lane Stables MeathEpilepsyCharity

Today 6/23 is International #DravetSyndrome Awareness Day! 💜 Today I’m thankful for: 💜Caregivers and their Kids with #Dravet that have taught me so much about caring for this rare #epilepsy 💜Organizations like Dravet Syndrome Foundation that coordinate the relentless pursuit of a cure 🧬

The U.S. FDA has granted Breakthrough Therapy designation for bexicaserin for the treatment of seizures associated with DEEs for patients two years of age or older. We are excited for the potential implications for the DEE community! bit.ly/3XLGnQX

🔊🔊 Such a cool, fun chat with epileptologist Jon Kleen 🤩! Jon, from @ucsfhospitals Medical Center 🇺🇸 speaks about his career focus on the cognitive function issues 😣 that soooo often comes along as part of epilepsy and how they must be recognised and addressed!! Check out our

¿Cómo? No sabes qué es el síndrome de #Angelman, ¿verdad? Te lo explico 👇👇👇 neuropediatra.org/2024/02/15/sin…

As more and more #PhDs head to industry, is a #postdoc worth it? I asked former postdocs that question—and the reactions were mixed. Here's what they said: #ScienceTwitter #AcademicChatter science.org/content/articl…

“dos de los médicos que trataron a Adela justificaron su trágico final argumentando que el autismo de la niña dificultaba su capacidad para verbalizar sus síntomas.” Que miedo dan estas cosas 😖 Precisamente si el paciente es no verbal o tiene dificultad de expresión hay que

Tremendous two days with our #STXBP1 researchers at our Research Roundtable. We are accelerating science progress! Let's #curestxbp1 #STXBP1Summit2024

Iris es una niña con síndrome por deficiencia CDKL5, una las llamadas enfermedades raras. Su madre cuenta cómo es la vida de la pequeña y cómo la investigación les puede traer 'una cura'. Conoce más detalles aquí 👇

Hi ILAE, getting ready for #EEC2024 and looking for the abstracts to plan my schedule. When should we expect the abstracts to be searchable in the conference website? See you all in Rome! 🇮🇹🧠

I felt so inspired writing this story about Terry Jo Bichell, who became a neuroscientist in her 50s because of her son's rare condition. My latest for nature: nature.com/articles/d4158…

A lot of molecular and cell and developmental biology is concerned with figuring out the "functions" of various proteins. I'm starting to distrust that formulation...

Today we started the #EEC2024 ILAE Epilepsy Congress with a session on #CDKL5 deficiency disorder. It was a great example of collaboration between expert clinicians and parent advocates like Carol-Anne Mum to Amber from Cure CDKL5 💚 it made it worth it to be there at 8am!

“Are gene therapy approaches for #epilepsy ready for the clinic?” Great session at #EEC2024 I can actually think of several examples already in trials so the answer is “yes” 😉

Fascinating talk by impressive Gaia Colasante at the #EEC2024 with big implications for #Dravet syndrome treatment! Genetic rescue of #SCN1A in interneurons only works if done pre-symptomatically in Dravet mice. After symptom onset you need to treat all neurons in order to see

For all those interested in #Dravet syndrome at the #EEC2024 young age of cancer still catch up with the parallel meeting on the SCN1A-UP project at the Hilton, right at the entry from the convention. With the support of several national groups from the Dravet Syndrome European