A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yuge, Kotaro [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2018transfer abstract |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations - Muthuraja, P. ELSEVIER, 2017transfer abstract, official journal of the Japanese Society of Child Neurology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:40 ; year:2018 ; number:6 ; pages:493-497 ; extent:5 |
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| DOI / URN: |
10.1016/j.braindev.2018.02.002 |
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| 520 | |a Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. | ||
| 520 | |a Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. | ||
| 650 | 7 | |a West syndrome |2 Elsevier | |
| 650 | 7 | |a Japanese girl |2 Elsevier | |
| 650 | 7 | |a Typical Rett syndrome |2 Elsevier | |
| 650 | 7 | |a <ce:italic>STXBP1</ce:italic>mutation |2 Elsevier | |
| 700 | 1 | |a Iwama, Kazuhiro |4 oth | |
| 700 | 1 | |a Yonee, Chihiro |4 oth | |
| 700 | 1 | |a Matsufuji, Mayumi |4 oth | |
| 700 | 1 | |a Sano, Nozomi |4 oth | |
| 700 | 1 | |a Saikusa, Tomoko |4 oth | |
| 700 | 1 | |a Yae, Yukako |4 oth | |
| 700 | 1 | |a Yamashita, Yushiro |4 oth | |
| 700 | 1 | |a Mizuguchi, Takeshi |4 oth | |
| 700 | 1 | |a Matsumoto, Naomichi |4 oth | |
| 700 | 1 | |a Matsuishi, Toyojiro |4 oth | |
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10.1016/j.braindev.2018.02.002 doi GBV00000000000692.pica (DE-627)ELV042874947 (ELSEVIER)S0387-7604(18)30034-2 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yuge, Kotaro verfasserin aut A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl 2018transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. West syndrome Elsevier Japanese girl Elsevier Typical Rett syndrome Elsevier <ce:italic>STXBP1</ce:italic>mutation Elsevier Iwama, Kazuhiro oth Yonee, Chihiro oth Matsufuji, Mayumi oth Sano, Nozomi oth Saikusa, Tomoko oth Yae, Yukako oth Yamashita, Yushiro oth Mizuguchi, Takeshi oth Matsumoto, Naomichi oth Matsuishi, Toyojiro oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:40 year:2018 number:6 pages:493-497 extent:5 https://doi.org/10.1016/j.braindev.2018.02.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 40 2018 6 493-497 5 |
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10.1016/j.braindev.2018.02.002 doi GBV00000000000692.pica (DE-627)ELV042874947 (ELSEVIER)S0387-7604(18)30034-2 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yuge, Kotaro verfasserin aut A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl 2018transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. West syndrome Elsevier Japanese girl Elsevier Typical Rett syndrome Elsevier <ce:italic>STXBP1</ce:italic>mutation Elsevier Iwama, Kazuhiro oth Yonee, Chihiro oth Matsufuji, Mayumi oth Sano, Nozomi oth Saikusa, Tomoko oth Yae, Yukako oth Yamashita, Yushiro oth Mizuguchi, Takeshi oth Matsumoto, Naomichi oth Matsuishi, Toyojiro oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:40 year:2018 number:6 pages:493-497 extent:5 https://doi.org/10.1016/j.braindev.2018.02.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 40 2018 6 493-497 5 |
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10.1016/j.braindev.2018.02.002 doi GBV00000000000692.pica (DE-627)ELV042874947 (ELSEVIER)S0387-7604(18)30034-2 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yuge, Kotaro verfasserin aut A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl 2018transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. West syndrome Elsevier Japanese girl Elsevier Typical Rett syndrome Elsevier <ce:italic>STXBP1</ce:italic>mutation Elsevier Iwama, Kazuhiro oth Yonee, Chihiro oth Matsufuji, Mayumi oth Sano, Nozomi oth Saikusa, Tomoko oth Yae, Yukako oth Yamashita, Yushiro oth Mizuguchi, Takeshi oth Matsumoto, Naomichi oth Matsuishi, Toyojiro oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:40 year:2018 number:6 pages:493-497 extent:5 https://doi.org/10.1016/j.braindev.2018.02.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 40 2018 6 493-497 5 |
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10.1016/j.braindev.2018.02.002 doi GBV00000000000692.pica (DE-627)ELV042874947 (ELSEVIER)S0387-7604(18)30034-2 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yuge, Kotaro verfasserin aut A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl 2018transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. West syndrome Elsevier Japanese girl Elsevier Typical Rett syndrome Elsevier <ce:italic>STXBP1</ce:italic>mutation Elsevier Iwama, Kazuhiro oth Yonee, Chihiro oth Matsufuji, Mayumi oth Sano, Nozomi oth Saikusa, Tomoko oth Yae, Yukako oth Yamashita, Yushiro oth Mizuguchi, Takeshi oth Matsumoto, Naomichi oth Matsuishi, Toyojiro oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:40 year:2018 number:6 pages:493-497 extent:5 https://doi.org/10.1016/j.braindev.2018.02.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 40 2018 6 493-497 5 |
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10.1016/j.braindev.2018.02.002 doi GBV00000000000692.pica (DE-627)ELV042874947 (ELSEVIER)S0387-7604(18)30034-2 DE-627 ger DE-627 rakwb eng 540 VZ 35.21 bkl Yuge, Kotaro verfasserin aut A novel <ce:italic>STXBP1</ce:italic> mutation causes typical Rett syndrome in a Japanese girl 2018transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. West syndrome Elsevier Japanese girl Elsevier Typical Rett syndrome Elsevier <ce:italic>STXBP1</ce:italic>mutation Elsevier Iwama, Kazuhiro oth Yonee, Chihiro oth Matsufuji, Mayumi oth Sano, Nozomi oth Saikusa, Tomoko oth Yae, Yukako oth Yamashita, Yushiro oth Mizuguchi, Takeshi oth Matsumoto, Naomichi oth Matsuishi, Toyojiro oth Enthalten in Elsevier Science Muthuraja, P. ELSEVIER Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations 2017transfer abstract official journal of the Japanese Society of Child Neurology Amsterdam [u.a.] (DE-627)ELV015554368 volume:40 year:2018 number:6 pages:493-497 extent:5 https://doi.org/10.1016/j.braindev.2018.02.002 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.21 Lösungen Flüssigkeiten Physikalische Chemie VZ AR 40 2018 6 493-497 5 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:40 year:2018 number:6 pages:493-497 extent:5 |
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Enthalten in Hydrogen bonding interactions and supramolecular assemblies in 2-amino guanidinium 4-methyl benzene sulphonate crystal structure: Hirshfeld surfaces and computational calculations Amsterdam [u.a.] volume:40 year:2018 number:6 pages:493-497 extent:5 |
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Yuge, Kotaro @@aut@@ Iwama, Kazuhiro @@oth@@ Yonee, Chihiro @@oth@@ Matsufuji, Mayumi @@oth@@ Sano, Nozomi @@oth@@ Saikusa, Tomoko @@oth@@ Yae, Yukako @@oth@@ Yamashita, Yushiro @@oth@@ Mizuguchi, Takeshi @@oth@@ Matsumoto, Naomichi @@oth@@ Matsuishi, Toyojiro @@oth@@ |
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Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. |
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Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. |
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Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age. Her epilepsy onset was earlier than is typical for RTT patients. However, she fully met the 2010 diagnostic criteria of typical RTT. STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. |
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