Pyridoxal phosphate-responsive seizures
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Epilepsiezentrum Frankfurt Rhein-Main der Universitätsmedizin Frankfurt
Universitätsmedizin Frankfurt Frankfurter Referenzzentrum für Seltene Erkrankungen (FRZSE)
Schleusenweg 2 – 16
60528 Frankfurt
069 630185065
069 63017075
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069 6301 7466
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Friedrich-Baur-Institut am Klinikum der Ludwig-Maximilians-Universität München
LMU Klinikum München
Ziemssenstr. 1a
80336 München
089 440057400
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- Mitochondrial disease
- Neuroferritinopathy
- Classic pantothenate kinase-associated neurodegeneration
- Beta-propeller protein-associated neurodegeneration
- COASY protein-associated neurodegeneration
- Pantothenate kinase-associated neurodegeneration
- Huntington disease
- Atypical pantothenate kinase-associated neurodegeneration
- Mitochondrial membrane protein-associated neurodegeneration
- Infantile neuroaxonal dystrophy
- Hereditary spastic paraplegia
- Leukodystrophy
- Rare ataxia
- Neurodegeneration with brain iron accumulation
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- KBG syndrome
- ADNP syndrome
- Kabuki syndrome
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder