The diseases the association focuses on, approaches to treatment and announcements, written for families.
Published in Nature in September 2026 by the Boston Children's Hospital team, prime assembly can replace an entire exon and also works in non-dividing…
FRF-001 (AAV-9, intracerebroventricular) first-in-human phase 1/2 trial, 12 patients, ages 2-20. Started in Houston in July 2026; second site UCSF Ben…
ANKRD11 (16q24.3): macrodontia of the upper incisors, triangular face, short stature and developmental delay. Seizures start at a median age of 4 year…
A negative genome is not a biological result but the record of a particular investigation. Rewriting the phenotype, technically auditing the report, r…
Twisting contractions and rotating postures: DYT-TOR1A, KMT2B, dopa-responsive dystonia, SGCE and ATP1A3. Two golden rules — an L-dopa trial and Wilso…
A disease of the corticospinal tract: tip-toe-scissoring gait, bladder urgency and a slow course. Treatable mimics (dopa-responsive dystonia, B12, arg…
Two opposite ends of an autosomal recessive spectrum: drug-resistant seizures plus visual impairment in the first months (WOREE) and ataxia with contr…
Interneuron migration gene: X-linked West syndrome in male infants, hand dystonia in Partington, XLAG at the severe end. Spasm vigilance, occupational…
The brake on the mTOR pathway (GATOR1): hypermotor seizures during sleep, sulcus-bottom dysplasia hidden on a 'normal' MRI, and a high chance of surgi…
The disease of the mitochondrial DNA copying enzyme: drug-resistant seizures + a tendency to status/EPC + liver involvement. Paediatric neurology's cl…
Congenital Rett variant: a picture beginning in the first months, a mixture of chorea-dystonia and seizures, an infancy period that is hard to settle.…
Rett's mirror disorder — in boys: hypotonia, severe developmental delay and recurrent severe lung infections. A vaccination + early-treatment shield, …
Drug-resistant mixed seizures starting in the first 3 months, cortical visual impairment and a fluctuating course. Follow-up with the ganaxolone era, …
One of childhood's most photosensitive genetic epilepsies: seizures triggered by flashes, screens, sunlight, self-triggering behaviour, a blue-lens/sc…
Two opposite faces of the Kv1.2 potassium channel: the variant class changes the treatment. The ataxia-balance package, phenotype-based drug selection…
Head circumference that departs from the curve after birth + small cerebellum-pons: head circumference follow-up, vigilance for infantile spasms, eye-…
Marked language delay + hypotonia + autism features: comprehension is better than expression — AAC starts early. Constipation programme, behaviour-anx…
One of neurogenetics' most benign diagnoses: self-limiting infantile seizures + paroxysmal kinesigenic dyskinesia. Dramatic response to low-dose carba…
GAT-1 deficiency: drop-stare-jerk seizures at 2-4 years + a language/autism component. Priority for valproate-ketogenic diet, avoidance of CBZ/OXC, he…
The CMT/HMSN family: PMP22 duplication-HNPP, the uniform-slowing clue, the rule "rapid worsening is not CMT — think of CIDP", vincristine contraindica…
CMS/junction disorders: fatigable weakness, CHAT-RAPSN apnoea attacks, the rule that "pyridostigmine worsens COLQ/DOK7", the list of drugs that disrup…
Bethlem/Ullrich (COL6): finger-elbow-Achilles contractures, the 'CK can be normal' trap, the fact that the heart is spared while breathing must be mon…
GNAO1: epilepsy + severe movement disorder; dyskinetic crises triggered by fever-pain-excitement, rhabdomyolysis warning (dark urine), crisis action p…
PTHS: hyperventilation-apnoea attacks while awake (not seizures), a cheerful temperament, severe constipation, myopia follow-up, epilepsy in 40-50% an…
One gene, three faces: acetazolamide-responsive episodic ataxia type 2, hemiplegic migraine where 'the first attack looks like a stroke' (with a head-…
Comprehensive A-T guide: early diagnosis (confusion with CP), immune-lung-cancer follow-up, the radiation rule, carrier-mother screening and prognosis…
A comprehensive GLUT1 guide: the clinical spectrum, CSF diagnostic criteria, ketogenic diet implementation, medicines to avoid, and prognosis with ear…
GRIN1 neurodevelopmental disorder: the NMDA receptor, oculogyric attacks being confused with seizures, epilepsy, gain/loss-of-function variant logic, …
The Landau-Kleffner/ESES picture in GRIN2A and the "sleep EEG in the child with regressing language" rule; the developmental-autism picture in GRIN2B;…
PCDH19 epilepsy: the cellular interference mechanism, fever-triggered clusters, fear-and-scream seizures, the benzodiazepine bridge, why sodium channe…
An umbrella guide: when to suspect, the MRI-first approach, a panorama of MLD-Krabbe-X-ALD-Canavan-Alexander-PMD-VWM-AGS, adrenal insufficiency and th…
Neuronal ceroid lipofuscinoses: the clinical quartet, the CLN1-Rett confusion, the EEG clue in CLN2 and ICV enzyme therapy, the 'from ophthalmologist …
Infantile neuroaxonal dystrophy: combination of truncal hypotonia with areflexia-spasticity, nystagmus-optic atrophy, EMG + cerebellar atrophy signatu…
Comprehensive KCNT1 guide: EIMFS and sleep-related hypermotor epilepsy, the ketogenic diet, the quinidine reality (QT risk), ECG monitoring, the emerg…
Comprehensive Down guide: TAM-leukaemia follow-up, sleep study, thyroid-hearing-vision schedule, atlantoaxial assessment, development-behaviour and ad…
Comprehensive ZSD guide: peroxisome biology, severe-moderate-mild forms, adrenal-hearing-vision follow-up, treatment package and prognosis.…
A comprehensive Alexander guide: form-by-form clinical features, MRI criteria, management of vomiting attacks, prognosis, and the zilganersen trial ta…
A comprehensive guide to Gaucher 2-3: type distinction, eye movement examination, the strength and limits of ERT, ambroxol research and prognosis.…
Comprehensive PME guide: distinguishing ULD from Lafora, warning signs, drug choice (including perampanel) and drugs to avoid, honest prognosis and re…
A comprehensive guide to glycine encephalopathy: severe-mild forms, CSF/plasma ratio, benzoate-dextromethorphan treatment, honest prognosis and family…
Comprehensive guide: the PHGDH spectrum, CSF-serine diagnosis, the L-serine+glycine regimen, treatment reports during pregnancy, and prognosis.…
A comprehensive Kabuki guide: KMT2D/KDM6A, methylation signature, the cardiac-palate-immune-endocrine follow-up checklist and prognosis.…
Comprehensive Sotos guide: NSD1, growth-bone age dynamics, associated screenings, behavioural profile and prognosis.…
An in-depth SYNGAP1 guide: absences with eyelid myoclonia, food-triggered reflex seizures, avoiding CBZ/OXC, helmet-and-fall safety, the behaviour-sle…
The gain/loss distinction; the special place of sodium channel blockers in early onset, and the rule of avoidance in the loss type.…
A comprehensive PDE guide: ALDH7A1 mechanism, the rationale of the treatment trial protocol, PLP/folinic acid sibling conditions, triple therapy and p…
Comprehensive AGS guide: gene-phenotype spectrum, distinguishing from TORCH, the chilblain clue, JAK inhibitor experience and prognosis.…
Comprehensive PMD guide: PLP1 mechanism-form relationship, hypomyelination MRI, support package, carrier mother counselling and prognosis.…
A comprehensive Pompe guide: distinguishing infantile/late-onset forms, CRIM status and immune tolerance, ERT generations, the follow-up package and p…
A comprehensive SWS guide: risk assessment, seizure and stroke-like episode management, glaucoma follow-up, aspirin practice, surgery and prognosis.…
A comprehensive NPC guide: age-related forms, clues from vertical gaze palsy and cataplexy, oxysterol diagnosis, miglustat and the 2024 approvals, and…
A comprehensive Krabbe guide: infantile stages, late-onset forms, psychosine diagnosis, the stem cell transplant window, the horizon of gene therapy, …
Comprehensive Canavan guide: ASPA mechanism, MRS signature, care package, mild form, prognosis and gene therapy programmes advancing on two fronts.…
Comprehensive Menkes guide: copper enzymes, early diagnostic tests, the copper-histidine window, bone-bladder follow-up, warning on confusion with abu…
Comprehensive guide: distinguishing GAMT/AGAT/carrier, urine-MRS diagnosis, treatment schemes by type, presymptomatic treatment in siblings, and progn…
Comprehensive NF1 guide: diagnostic criteria, optic glioma-learning-skeletal follow-up, selumetinib/mirdametinib, transition to adult care and prognos…
A comprehensive Williams syndrome guide: elastin biology, SVAS-hypertension follow-up, hypercalcaemia, cognitive profile, anaesthesia warning and prog…
A comprehensive 22q11 guide: the heart-calcium-immune triad, palate/speech, annual follow-up checklist, adolescent mental health screening and prognos…
A comprehensive PKU guide: screening-confirmation, target phenylalanine ranges, lifelong diet, sapropterin/pegvaliase, maternal PKU and prognosis.…
Comprehensive mito guide: syndromes, two-genome inheritance, diagnostic pathway, crisis management, drugs to avoid, treatable subtypes and prognosis.…
Comprehensive STXBP1 guide: phenotype spectrum, EEG evolution, seizure course, movement findings, prognosis and gene-based research horizon.…
Comprehensive KCNQ2 guide: distinguishing the benign form from encephalopathy, drug choice in the acute period, prognosis and Kv7 channel opener resea…
Comprehensive SMA guide: SMN1/SMN2 mechanism, the first days if screening is positive, comparison of the three approved treatments, multidisciplinary …
Comprehensive Duchenne guide: the diagnostic pathway, steroid management, cardiorespiratory follow-up, anaesthesia warnings, prognosis and the exon sk…
A comprehensive TSC guide: diagnostic criteria, organ-by-organ follow-up calendar, early intervention in infantile spasms, everolimus, TAND and progno…
Comprehensive PWS guide: imprinting genetics, feeding stages, growth hormone, food safety, behaviour-psychosis follow-up, prognosis and new drugs.…
Comprehensive MLD guide: forms, the ARSA pseudodeficiency trap, atidarsagene gene therapy criteria, sibling screening and prognosis.…
Comprehensive CLN2 guide: language delay+seizure warning, EEG photic signature, cerliponase alfa administration, sibling screening and honest prognosi…
A comprehensive Angelman guide: genetic subtypes, the EEG signature, seizure-sleep management, prognosis, and a detailed account of the GTX-102/ION582…
A comprehensive Rett guide: the MECP2 mechanism, the 4-stage course, QT-scoliosis-breathing follow-up, trofinetide, prognosis and a detailed look at t…
A comprehensive Dravet guide: SCN1A mechanism, stage-by-stage clinical course, medicines to avoid, emergency planning, prognosis (including SUDEP), an…
A road map for genetic epilepsies: who should have which test, how to interpret a VUS, gene-drug matches (precision medicine), and the era of gene-tar…
A comprehensive Fragile X guide: CGG repeats and premutation (FXTAS/FXPOI), clinical profile, behaviour management, prognosis and the research horizon…
Comprehensive SLOS guide: DHCR7 mechanism, the 2nd-3rd toe syndactyly clue, behaviour-sleep management, cholesterol treatment and prognosis.…
Skylark Bio has announced SKY-AS, a preclinical gene therapy candidate for Angelman syndrome designed to deliver a working copy of the UBE3A gene to n…
Current treatment approaches in Dravet Syndrome: comprehensive information on drug treatments, genetic therapy, quality of life and multidisciplinary …
